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
NPAP1	23742	broad.mit.edu	37	15	24923158	24923158	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:24923158C>A	ENST00000329468.2	+	1	2618	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGTCTGCCTCTGTCTCCAAG	0.522000													41	130					4.44401e-20	4.88215e-20	0.039052	1	0
SEMA3C	10512	broad.mit.edu	37	7	80418764	80418764	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:80418764A>G	ENST00000265361.3	-	12	1773	c.1212T>C	c.(1210-1212)caT>caC	p.H404H	SEMA3C_ENST00000419255.2_Silent_p.H404H|SEMA3C_ENST00000544525.1_Silent_p.H422H	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	404	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACATGAGAGGATGGTTCCGAA	0.418000													16	125					0	0	0.024245	0	0
DNAH7	56171	broad.mit.edu	37	2	196801362	196801362	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:196801362T>C	ENST00000312428.6	-	20	3333	c.3233A>G	c.(3232-3234)gAa>gGa	p.E1078G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGAAGTTCATCATTGGA	0.299000													20	92					0	0	0.062417	0	0
OTUB1	55611	broad.mit.edu	37	11	63764101	63764101	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:63764101G>A	ENST00000538426.1	+	4	363	c.319G>A	c.(319-321)Gac>Aac	p.D107N	OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.D116N|OTUB1_ENST00000422031.2_Missense_Mutation_p.D144N|OTUB1_ENST00000535715.1_Missense_Mutation_p.D107N|OTUB1_ENST00000543988.1_Missense_Mutation_p.D77N|OTUB1_ENST00000428192.2_Missense_Mutation_p.D107N	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	107	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACTGCTGGATGACAGCAAGGA	0.592000													17	56					0	0	0.033300	0	0
YARS	8565	broad.mit.edu	37	1	33252028	33252028	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:33252028C>G	ENST00000373477.4	-	8	1749	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	281					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCATTTCTCATCTCGTAGG	0.428000													13	39					0	0	0.105934	0	0
ITGA4	3676	broad.mit.edu	37	2	182322416	182322416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:182322416G>A	ENST00000397033.2	+	1	465	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.R12Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	12					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCGGCCCCCGAAGGGCCGCC	0.662000													7	17					0	0	0.029380	0	0
HECW1	23072	broad.mit.edu	37	7	43591890	43591890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:43591890G>A	ENST00000395891.1	+	28	5070	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1455K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1489	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCACCGCGGAAATCGACCT	0.522000													25	95					0	0	0.091800	0	0
MPZL3	196264	broad.mit.edu	37	11	118111030	118111030	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:118111030C>T	ENST00000278949.4	-	2	191	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	MPZL3_ENST00000527472.1_Missense_Mutation_p.E34K|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	46	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGATCTTTTCTCCAACATAA	0.418000													14	66					0	0	0.028581	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71186202	71186202	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:71186202C>T	ENST00000234396.4	+	5	495	c.422C>T	c.(421-423)gCg>gTg	p.A141V	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A141V|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	141					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GTGGTCATGGCGGAGGACTTT	0.582000													5	55					0	0	0.021553	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068155	73068155	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:73068155C>T	ENST00000263674.3	+	8	4327	c.3977C>T	c.(3976-3978)tCc>tTc	p.S1326F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1326					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGTCAGGCTCCCTGCGGCGC	0.632000													10	87					0	0	0.058154	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819200	50819200	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:50819200G>C	ENST00000374115.3	+	1	854	c.414G>C	c.(412-414)gtG>gtC	p.V138V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	138					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGCTGCTAGTGAACCCCTTGA	0.632000													29	80					0	0	0.041601	0	0
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				35	108					0	0	0.074837	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277257	100277257	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:100277257T>G	ENST00000403410.1	+	6	1080	c.460T>G	c.(460-462)Ttc>Gtc	p.F154V	TMEM45A_ENST00000323523.4_Missense_Mutation_p.F138V			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGCCTTTATCTTCTACAACCA	0.478000													36	98					0	0	0.074837	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729056	18729056	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:18729056C>T	ENST00000600490.1	+	7	941	c.756C>T	c.(754-756)gaC>gaT	p.D252D	TMEM59L_ENST00000262817.3_Silent_p.D252D			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	252						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCCACAGGACAATGACTTCC	0.627000													6	42					0	0	0.021553	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145805	11145805	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11145805C>G	ENST00000358026.2	+	29	4451	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	SMARCA4_ENST00000590574.1_Silent_p.L1356L|SMARCA4_ENST00000450717.3_Silent_p.L1356L|SMARCA4_ENST00000344626.4_Silent_p.L1389L|SMARCA4_ENST00000541122.2_Silent_p.L1356L|SMARCA4_ENST00000444061.3_Silent_p.L1356L|SMARCA4_ENST00000429416.3_Silent_p.L1389L|SMARCA4_ENST00000413806.3_Silent_p.L1356L|SMARCA4_ENST00000589677.1_Silent_p.L1356L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGTGGCTCAAGGTACATG	0.657000			"""F, N, Mis"""		NSCLC								26	25					0	0	0.083992	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944475	25944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944475C>G	ENST00000374332.4	+	1	517	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	63					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCAGCCTGGTCTGGAAGTGGT	0.746000													4	38					0	0	0.014758	0	0
ZNF208	7757	broad.mit.edu	37	19	22156015	22156015	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:22156015T>C	ENST00000397126.4	-	4	1969	c.1821A>G	c.(1819-1821)aaA>aaG	p.K607K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K507N(2)|p.K607N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCACCAG	0.368000													8	74					0	0	0.069234	0	0
SHANK3	85358	broad.mit.edu	37	22	51137179	51137179	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:51137179C>T	ENST00000414786.2	+	12	1745	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	SHANK3_ENST00000262795.3_Silent_p.F536F|SHANK3_ENST00000445220.2_Silent_p.F521F			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	536										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGGCTGGTTCCCGGCCGACT	0.667000													10	48					0	0	0.020292	0	0
AOC3	8639	broad.mit.edu	37	17	41008480	41008480	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41008480G>C	ENST00000308423.2	+	4	2365	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	AOC3_ENST00000591562.1_Missense_Mutation_p.E192D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	735					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGCCTGCGAGGTCAACCCCC	0.622000													8	30					0	0	0.049695	0	0
KBTBD2	25948	broad.mit.edu	37	7	32919190	32919190	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:32919190G>C	ENST00000304056.4	-	2	726	c.27C>G	c.(25-27)atC>atG	p.I9M	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	9										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTCAGTATTGATCTGCCTCT	0.388000													4	24					0	0	0.009096	0	0
PPM1G	5496	broad.mit.edu	37	2	27609064	27609064	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27609064C>T	ENST00000344034.4	-	3	537	c.273G>A	c.(271-273)caG>caA	p.Q91Q	PPM1G_ENST00000350803.4_Silent_p.Q91Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	91					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACAGACCTTCTGTAGCTTGC	0.473000													65	232					0	0	0.048971	0	0
SRRM2	23524	broad.mit.edu	37	16	2812868	2812868	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2812868C>T	ENST00000301740.8	+	11	2888	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	780	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCAGCCTTTCAGGGTCTTCC	0.517000													69	337					0	0	0.048971	0	0
MYSM1	114803	broad.mit.edu	37	1	59148058	59148058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:59148058C>T	ENST00000472487.1	-	8	697	c.658G>A	c.(658-660)Gat>Aat	p.D220N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	220					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACTTCTTCATCATCAGATAAC	0.388000													26	132					0	0	0.030593	0	0
LRRC7	57554	broad.mit.edu	37	1	70505456	70505456	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:70505456G>C	ENST00000310961.5	+	22	4268	c.3850G>C	c.(3850-3852)Gaa>Caa	p.E1284Q	LRRC7_ENST00000415775.2_Missense_Mutation_p.E563Q|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1279Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1279						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGACATATAGAAGCTAGACG	0.438000													26	127					0	0	0.030593	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514189	58514189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:58514189G>C	ENST00000370996.3	-	1	1163	c.798C>G	c.(796-798)taC>taG	p.Y266*	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	266	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TGTTGTCCCAGTACTCGGCAC	0.617000													20	35					0	0	0.055883	0	0
PRKCZ	5590	broad.mit.edu	37	1	2077510	2077510	+	Silent	SNP	C	C	T	rs150712752		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2077510C>T	ENST00000400921.2	+	4	731	c.48C>T	c.(46-48)aaC>aaT	p.N16N	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.N16N	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	199	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACGACAAGAACGAGGACGCCG	0.577000													24	51					0	0	0.037714	0	0
IGFALS	3483	broad.mit.edu	37	16	1840972	1840972	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1840972G>A	ENST00000415638.3	-	2	1640	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	IGFALS_ENST00000215539.3_Missense_Mutation_p.R483W	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	483					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGAAGGCCCGCTGCAGGGGG	0.697000													12	24					0	0	0.080935	0	0
ZNF3	7551	broad.mit.edu	37	7	99669200	99669200	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99669200G>C	ENST00000303915.6	-	5	1874	c.907C>G	c.(907-909)Cag>Gag	p.Q303E	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Missense_Mutation_p.Q303E|ZNF3_ENST00000299667.4_Missense_Mutation_p.Q303E			P17036	ZNF3_HUMAN	zinc finger protein 3	303					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGGATTCTCTGATGGTGGGTG	0.532000													12	49					0	0	0.080935	0	0
MACF1	23499	broad.mit.edu	37	1	39753030	39753030	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753030C>T	ENST00000564288.1	+	15	2358	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	MACF1_ENST00000361689.2_Silent_p.F532F|MACF1_ENST00000545844.1_Silent_p.F532F|MACF1_ENST00000372915.3_Silent_p.F532F|MACF1_ENST00000567887.1_Silent_p.F564F|MACF1_ENST00000539005.1_Silent_p.F532F|MACF1_ENST00000317713.7_Silent_p.F532F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	532					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCATTTCACTTCACTTG	0.463000													45	148					0	0	0.048971	0	0
NBPF1	55672	broad.mit.edu	37	1	16893673	16893673	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:16893673C>A	ENST00000430580.2	-	25	3727		c.e25+1		NBPF1_ENST00000420031.2_Splice_Site|NBPF1_ENST00000432949.1_Splice_Site	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468000													31	1531					1.9806e-07	2.09473e-07	0.069288	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891330	89891330	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:89891330G>C	ENST00000534061.1	+	7	1044	c.814G>C	c.(814-816)Gat>Cat	p.D272H	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D272H	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	272	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAGACTTGATGTTGAAGA	0.328000													55	168					0	0	0.048971	0	0
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	by1000genomes	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617000													4	144					0	0	0.021553	0	0
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:10434488C>T	ENST00000377086.1	+	46	5263	c.5061C>T	c.(5059-5061)ctC>ctT	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433000													60	106					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	47					0.000422831	0.000438284	0.028581	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764430	140764430	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:140764430C>T	ENST00000518325.1	+	1	1964	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCTGTCAGCCACCGTC	0.652000													12	29					0	0	0.024245	0	0
GPKOW	27238	broad.mit.edu	37	X	48979986	48979986	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:48979986C>G	ENST00000156109.5	-	1	165	c.87G>C	c.(85-87)cgG>cgC	p.R29R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGCCGCCTCCGTGCGGACG	0.622000													6	6					0	0	0.021553	0	0
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642000													7	107					0	0	0.024245	0	0
WDR90	197335	broad.mit.edu	37	16	716348	716348	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:716348G>C	ENST00000549091.1	+	37	4836	c.4744G>C	c.(4744-4746)Gag>Cag	p.E1582Q	WDR90_ENST00000547944.1_Missense_Mutation_p.E179Q|WDR90_ENST00000315764.4_Missense_Mutation_p.E179Q|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.E1580Q	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1580										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGTGCAAAGAGGTAAAGCA	0.637000													13	118					0	0	0.093190	0	0
RNF185	91445	broad.mit.edu	37	22	31592944	31592944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:31592944C>G	ENST00000326132.5	+	5	490	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	RNF185_ENST00000266252.7_Intron|RNF185_ENST00000426256.2_Missense_Mutation_p.Q49E	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	111						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCTCGTCCTCAAGGACAGAG	0.458000													14	104					0	0	0.028581	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Translation_Start_Site	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:103050935C>T	ENST00000354356.4	-	0	798				SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H			P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413000													11	48					0	0	0.069234	0	0
MGAT3	4248	broad.mit.edu	37	22	39884111	39884111	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39884111C>G	ENST00000341184.6	+	2	974	c.759C>G	c.(757-759)ttC>ttG	p.F253L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	253					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGCTCAAGTTCCGGGAGATGC	0.642000													16	81					0	0	0.024245	0	0
NIF3L1	60491	broad.mit.edu	37	2	201757020	201757020	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:201757020G>A	ENST00000409020.1	+	2	648	c.354G>A	c.(352-354)gaG>gaA	p.E118E	NIF3L1_ENST00000409357.1_Silent_p.E118E|NIF3L1_ENST00000416651.1_Silent_p.E118E|NIF3L1_ENST00000409588.1_Silent_p.E118E|NIF3L1_ENST00000359683.4_Silent_p.E91E			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	118					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GGGCTCTGGAGAACAGAGTCG	0.547000													22	88					0	0	0.108266	0	0
MYPN	84665	broad.mit.edu	37	10	69934302	69934302	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:69934302C>G	ENST00000358913.5	+	11	2941	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	MYPN_ENST00000540630.1_Missense_Mutation_p.S818C|MYPN_ENST00000354393.2_Missense_Mutation_p.S543C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	818	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATTCCTGTCTCTCCTACCAGC	0.567000													20	67					0	0	0.076483	0	0
SERF2	10169	broad.mit.edu	37	15	44085799	44085799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:44085799G>T	ENST00000409960.2	+	3	189	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000381359.1_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000249786.4_Intron	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCCAAACGCTGAACTTAGTCC	0.542000													5	23					0.000602214	0.000620102	0.014758	1	0
ZNF12	7559	broad.mit.edu	37	7	6730809	6730809	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:6730809C>T	ENST00000405858.1	-	5	2305	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.Q550Q|ZNF12_ENST00000404360.1_Silent_p.Q514Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	588					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGCTGAATTCTGGCAGAAGG	0.413000													14	43					0	0	0.105934	0	0
NTSR1	4923	broad.mit.edu	37	20	61386205	61386205	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61386205G>A	ENST00000370501.3	+	2	1254	c.883G>A	c.(883-885)Gtc>Atc	p.V295I		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	295						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCTGGCAGGGTCCAGGCCCT	0.692000													9	28					0	0	0.047766	0	0
FSD2	123722	broad.mit.edu	37	15	83455949	83455949	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455949C>G	ENST00000334574.8	-	2	375	c.194G>C	c.(193-195)aGa>aCa	p.R65T	FSD2_ENST00000541889.1_Missense_Mutation_p.R65T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	65										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTGAAGGTCTCTTTGAGCCTT	0.438000													44	127					0	0	0.048971	0	0
TRIL	9865	broad.mit.edu	37	7	28996924	28996924	+	RNA	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:28996924G>C	ENST00000322982.3	-	0	1010							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TGGAAGATGCGCGGCCCGAGG	0.697000													7	40					0	0	0.038147	0	0
CDK3	1018	broad.mit.edu	37	17	73998411	73998411	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73998411T>C	ENST00000425876.2	+	4	486	c.398T>C	c.(397-399)cTg>cCg	p.L133P	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.L133P			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	133	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCCCAGAACCTGCTCATCAAT	0.602000													9	53					0	0	0.069234	0	0
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:70255920C>T	ENST00000342771.4	+	19	4039	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	AUTS2_ENST00000406775.2_Silent_p.L1216L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1240										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622000													6	20					0	0	0.029380	0	0
RIN2	54453	broad.mit.edu	37	20	19937330	19937330	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:19937330A>G	ENST00000255006.6	+	4	526	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.Y77C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	77	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GACTCAGGCTATGACAGCCTC	0.587000													6	21					0	0	0.029380	0	0
HBP1	26959	broad.mit.edu	37	7	106836328	106836328	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:106836328A>G	ENST00000222574.4	+	9	1303	c.1117A>G	c.(1117-1119)Atg>Gtg	p.M373V	HBP1_ENST00000485846.1_Missense_Mutation_p.M373V|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.M373V	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	373					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTTAAGTAGTATGGCTCGCCA	0.373000													34	85					0	0	0.045515	0	0
OTX2	5015	broad.mit.edu	37	14	57268748	57268748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:57268748G>A	ENST00000339475.5	-	5	875	c.599C>T	c.(598-600)tCa>tTa	p.S200L	OTX2_ENST00000555006.1_Missense_Mutation_p.S192L|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S192L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	192					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTAGGAAGTTGAGCCAGCATA	0.527000													19	68					0	0	0.043863	0	0
TJP3	27134	broad.mit.edu	37	19	3747947	3747947	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:3747947G>T	ENST00000541714.2	+	19	2940	c.2478G>T	c.(2476-2478)gaG>gaT	p.E826D	TJP3_ENST00000539908.2_Missense_Mutation_p.E790D|TJP3_ENST00000589378.1_Missense_Mutation_p.E835D|TJP3_ENST00000262968.9_Missense_Mutation_p.E859D|TJP3_ENST00000382008.3_Missense_Mutation_p.E840D|TJP3_ENST00000587686.1_Missense_Mutation_p.E845D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	840						tight junction	protein binding	p.Y863fs*64(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACGGCGAGGGGGGGCCCT	0.697000													10	16					1.58986e-06	1.67016e-06	0.069234	1	0
PPFIA2	8499	broad.mit.edu	37	12	82147853	82147853	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:82147853G>A	ENST00000550584.2	-	2	443	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PPFIA2_ENST00000549396.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R50W	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	309										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGGTCTCCCGAAGGGTGTCT	0.527000													11	36					0	0	0.093190	0	0
OR2A2	442361	broad.mit.edu	37	7	143807023	143807023	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143807023G>A	ENST00000408979.2	+	1	417	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTTTGGTGGTGATGTCCTATG	0.453000													47	93					0	0	0.048971	0	0
ENTPD1	953	broad.mit.edu	37	10	97607402	97607402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:97607402G>A	ENST00000371203.5	+	6	1186	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	ENTPD1_ENST00000371207.3_Missense_Mutation_p.C350Y|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C230Y|ENTPD1_ENST00000539125.1_Missense_Mutation_p.C200Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.C338Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C345Y|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	338					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCAGTTACTGCCCTTACTCC	0.443000													11	132					0	0	0.093190	0	0
BMPER	168667	broad.mit.edu	37	7	34118698	34118698	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:34118698C>G	ENST00000297161.2	+	13	1682	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	BMPER_ENST00000426693.1_Silent_p.L436L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	436	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCAGCACCTCACCGTGCGCT	0.652000													21	97					0	0	0.041601	0	0
GLS	2744	broad.mit.edu	37	2	191745874	191745874	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191745874A>C	ENST00000320717.3	+	1	322	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	AC005540.3_ENST00000413911.1_RNA|GLS_ENST00000338435.4_Missense_Mutation_p.S22R	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	22					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGCCGGCGTGAGCGCGACTCT	0.786000													3	9					0	0	0.009096	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630370	51630370	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:51630370G>T	ENST00000440804.3	+	4	899	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D278Y	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	278	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGATGCAGTTGACAGCAATCC	0.592000													16	124					9.16793e-09	9.76244e-09	0.033300	1	0
DLG5	9231	broad.mit.edu	37	10	79581243	79581243	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:79581243G>A	ENST00000372391.2	-	15	3004	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1000	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGGCTGGGGAGAGTGAGCAGG	0.572000													53	108					0	0	0.048971	0	0
SYBU	55638	broad.mit.edu	37	8	110592224	110592224	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:110592224G>A	ENST00000399066.3	-	4	1256	c.529C>T	c.(529-531)Cct>Tct	p.P177S	SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.P112S|SYBU_ENST00000533065.1_Missense_Mutation_p.P61S|SYBU_ENST00000422135.1_Missense_Mutation_p.P180S|SYBU_ENST00000408889.3_Missense_Mutation_p.P61S|SYBU_ENST00000529690.1_Missense_Mutation_p.P50S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Missense_Mutation_p.P180S|SYBU_ENST00000408908.2_Missense_Mutation_p.P180S|SYBU_ENST00000440310.1_Missense_Mutation_p.P180S|SYBU_ENST00000419099.1_Missense_Mutation_p.P179S|SYBU_ENST00000528647.1_Missense_Mutation_p.P179S|SYBU_ENST00000433638.1_Missense_Mutation_p.P180S|SYBU_ENST00000528331.1_Missense_Mutation_p.P61S|SYBU_ENST00000424158.2_Missense_Mutation_p.P185S|SYBU_ENST00000276646.9_Missense_Mutation_p.P180S|SYBU_ENST00000446070.2_Missense_Mutation_p.P179S|SYBU_ENST00000533895.1_Missense_Mutation_p.P179S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	180	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGCCCATGAGGACCTCGACTG	0.483000													28	164					0	0	0.108266	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501394	134501394	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:134501394G>A	ENST00000372195.1	-	10	1860	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	RAPGEF1_ENST00000372189.3_Silent_p.V522V|RAPGEF1_ENST00000372190.3_Silent_p.V540V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542000													18	59					0	0	0.043863	0	0
PBRM1	55193	broad.mit.edu	37	3	52675991	52675991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52675991C>A	ENST00000356770.4	-	9	972	c.970G>T	c.(970-972)Gaa>Taa	p.E324*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E356*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E356*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E356*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E356*			Q86U86	PB1_HUMAN	polybromo 1	356					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCATCTTCTTCACTTTCTGAG	0.368000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								78	177					1.02218e-41	1.139e-41	0.048971	1	0
BBS10	79738	broad.mit.edu	37	12	76740945	76740945	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:76740945C>G	ENST00000393262.3	-	2	903	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGAATAAACTCTGATCCAGAA	0.368000									Bardet-Biedl syndrome				10	44					0	0	0.093190	0	0
ZNF791	163049	broad.mit.edu	37	19	12739575	12739575	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:12739575C>T	ENST00000343325.4	+	4	1394	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.P302L|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P379L	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGAGAAAAACCCTATGAGTGT	0.393000													38	162					0	0	0.104719	0	0
PDE5A	8654	broad.mit.edu	37	4	120481508	120481508	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:120481508G>C	ENST00000354960.3	-	7	1461	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	PDE5A_ENST00000394439.1_Missense_Mutation_p.S329C|PDE5A_ENST00000264805.5_Missense_Mutation_p.S339C	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	381	GAF 2.			S -> F (in Ref. 9; AAP31235).	platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323000													7	42					0	0	0.029380	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136190	92136190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:92136190G>A	ENST00000256343.3	-	14	1411	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	419					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGTGGCTTCGGGGATGAAAT	0.413000													15	35					0	0	0.024245	0	0
ZNF707	286075	broad.mit.edu	37	8	144776617	144776617	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144776617G>A	ENST00000532205.1	+	8	1932	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	ZNF707_ENST00000532158.1_Missense_Mutation_p.E345K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E345K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E345K|ZNF707_ENST00000454097.1_Missense_Mutation_p.E345K			Q96C28	ZN707_HUMAN	zinc finger protein 707	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGTTCTACGAGTGCGGCCA	0.647000													9	26					0	0	0.058154	0	0
REV3L	5980	broad.mit.edu	37	6	111697184	111697184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:111697184G>A	ENST00000435970.1	-	15	2956	c.2140C>T	c.(2140-2142)Caa>Taa	p.Q714*	REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q792*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q792*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q792*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	792					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGTGCTGCTTGCTGGCTGAGG	0.358000								DNA polymerases (catalytic subunits)					26	125					0	0	0.091800	0	0
CUTA	51596	broad.mit.edu	37	6	33384884	33384884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33384884T>C	ENST00000374500.5	-	4	541	c.410A>G	c.(409-411)gAg>gGg	p.E137G	CUTA_ENST00000494751.1_Missense_Mutation_p.E95G|CUTA_ENST00000488478.1_Missense_Mutation_p.E118G|CUTA_ENST00000440279.3_Missense_Mutation_p.E95G|CUTA_ENST00000374496.3_Missense_Mutation_p.E95G|CUTA_ENST00000488034.1_Missense_Mutation_p.E118G|CUTA_ENST00000607266.1_Missense_Mutation_p.E95G	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	118					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CATCAGCACCTCACTGTCTTC	0.507000													22	70					0	0	0.108266	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839802	27839802	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839802C>T	ENST00000328488.2	-	1	297	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTAGGCCTCGCAAGCCTCC	0.572000													26	105					0	0	0.091800	0	0
EXOC4	60412	broad.mit.edu	37	7	132959795	132959795	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:132959795G>C	ENST00000253861.4	+	2	174	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	EXOC4_ENST00000393161.2_Missense_Mutation_p.E49Q|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	49					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCGCCTTGAAGAAGCCTACGA	0.458000													25	56					0	0	0.099896	0	0
PITPNM1	9600	broad.mit.edu	37	11	67271646	67271646	+	Silent	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67271646G>T	ENST00000356404.3	-	2	231	c.6C>A	c.(4-6)ctC>ctA	p.L2L	PITPNM1_ENST00000436757.2_Silent_p.L2L|PITPNM1_ENST00000534749.1_Silent_p.L2L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	2					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ATTCCTTGATGAGCATCCTGA	0.706000													7	35					1.76689e-08	1.87507e-08	0.058154	1	0
CPD	1362	broad.mit.edu	37	17	28788939	28788939	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:28788939G>A	ENST00000225719.4	+	19	3751	c.3675G>A	c.(3673-3675)aaG>aaA	p.K1225K	CPD_ENST00000543464.2_Silent_p.K978K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1225	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGACTGGAAAGCCAATCTCTA	0.353000													41	109					0	0	0.042209	0	0
ZNF259	8882	broad.mit.edu	37	11	116649676	116649676	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:116649676C>G	ENST00000227322.3	-	14	1404	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	449					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATAGCCCTCTGTCTTCATG	0.522000													17	61					0	0	0.033300	0	0
TCIRG1	10312	broad.mit.edu	37	11	67818101	67818101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67818101C>A	ENST00000265686.3	+	19	2492	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*	TCIRG1_ENST00000530802.1_Intron|TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.S579*	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	795					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGGGACTCTCAGCCTTCCTG	0.662000													31	99					8.73648e-17	9.4975e-17	0.069456	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135720782	135720782	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:135720782T>C	ENST00000264977.3	+	2	1059	c.442T>C	c.(442-444)Tct>Cct	p.S148P	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	148					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAGTTAAGTCTGACTCATT	0.403000													30	66					0	0	0.041601	0	0
ZRANB1	54764	broad.mit.edu	37	10	126660540	126660540	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126660540C>G	ENST00000359653.4	+	3	1380	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	337					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAAGGTGTCTCAACAAGCAGC	0.393000													11	77					0	0	0.069234	0	0
ZIC1	7545	broad.mit.edu	37	3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:147128485G>A	ENST00000282928.4	+	1	1315	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	196					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGCTGCACGGCTACGGGCC	0.652000													14	44					0	0	0.020292	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964747	32964747	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:32964747C>G	ENST00000321639.5	+	10	2779	c.2451C>G	c.(2449-2451)atC>atG	p.I817M		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	817						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)		TCTTCCTCATCAACTGCATCG	0.632000													18	98					0	0	0.055883	0	0
VCL	7414	broad.mit.edu	37	10	75855484	75855484	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:75855484G>A	ENST00000211998.4	+	12	1708	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.R538R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	538	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGCCTTATCGGCAAGATCTTC	0.582000													4	168					0	0	0.014758	0	0
SENP6	26054	broad.mit.edu	37	6	76376506	76376506	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:76376506C>T	ENST00000370014.3	+	10	1692	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	SENP6_ENST00000447266.2_Missense_Mutation_p.S358L|SENP6_ENST00000327284.8_Missense_Mutation_p.S351L|SENP6_ENST00000370010.2_Missense_Mutation_p.S351L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	358					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCTGCTGATTCAGCATGTTCT	0.408000													22	70					0	0	0.083992	0	0
VPS33A	65082	broad.mit.edu	37	12	122748187	122748187	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:122748187C>T	ENST00000267199.4	-	3	340	c.228G>A	c.(226-228)gtG>gtA	p.V76V	RP11-512M8.5_ENST00000535844.1_Silent_p.V76V|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Silent_p.V76V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	76					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTATATTCTTCACATCAGCTG	0.388000													10	72					0	0	0.058154	0	0
SAP30BP	29115	broad.mit.edu	37	17	73698631	73698631	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73698631G>A	ENST00000584667.1	+	6	725	c.468G>A	c.(466-468)aaG>aaA	p.K156K	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.K140K	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	156					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAAAGGAAGAAAGAATTTC	0.453000													15	55					0	0	0.028581	0	0
TRPV4	59341	broad.mit.edu	37	12	110236715	110236715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:110236715C>A	ENST00000418703.2	-	5	950	c.856G>T	c.(856-858)Gag>Tag	p.E286*	TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E286*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E252*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E286*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E239*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E286*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	286					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCAGCTCCCCTGCGGGC	0.682000													20	58					8.04996e-18	8.81258e-18	0.062417	1	0
SLC2A14	144195	broad.mit.edu	37	12	7981428	7981428	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:7981428T>C	ENST00000543909.1	-	11	1376	c.617A>G	c.(616-618)gAg>gGg	p.E206G	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E183G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E183G|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E221G|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E206G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	206					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGGCCATAGCTCTTCAGACCC	0.453000													12	125					0	0	0.024245	0	0
KARS	3735	broad.mit.edu	37	16	75674163	75674163	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:75674163T>A	ENST00000319410.5	-	4	512	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.I103F	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	103					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTGAGTGAGATGTCTACATGG	0.448000													68	238					0	0	0.048971	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:56565655C>T	ENST00000394023.3	-	21	2098	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E634K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E665K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E665K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	634					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542000													7	81					0	0	0.029380	0	0
RUSC1	23623	broad.mit.edu	37	1	155292131	155292131	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:155292131G>T	ENST00000368352.5	+	2	718	c.567G>T	c.(565-567)caG>caT	p.Q189H	RUSC1_ENST00000368354.3_Missense_Mutation_p.Q189H|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	189						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCACCTGCCAGGACGTCCCTT	0.607000													29	69					1.75199e-13	1.89142e-13	0.034045	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47193380	47193380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:47193380C>G	ENST00000337137.4	+	4	666	c.500C>G	c.(499-501)tCt>tGt	p.S167C	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S120C|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S120C	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	167						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGGTCCCAGTCTCTCCCACAC	0.652000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	92					0	0	0.049695	0	0
ZUFSP	221302	broad.mit.edu	37	6	116987891	116987891	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:116987891T>A	ENST00000368576.3	-	2	708	c.465A>T	c.(463-465)gaA>gaT	p.E155D	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E155D	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	155						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGAATGGACATTCAGGAGGAC	0.373000													19	95					0	0	0.062417	0	0
OR9A4	130075	broad.mit.edu	37	7	141618814	141618814	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:141618814A>T	ENST00000548136.1	+	1	198	c.139A>T	c.(139-141)Att>Ttt	p.I47F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CATCATCATGATTGTCTGTGT	0.458000													46	113					0	0	0.048971	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621295	144621295	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144621295G>A	ENST00000262577.5	-	2	273	c.242C>T	c.(241-243)cCg>cTg	p.P81L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	81					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.P81Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGAGGGTCCCGGGGGCCGATT	0.667000													36	114					0	0	0.069456	0	0
FAM115A	9747	broad.mit.edu	37	7	143573171	143573171	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143573171A>T	ENST00000479870.1	-	2	739	c.531T>A	c.(529-531)agT>agA	p.S177R	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.S177R	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	177										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGCCAGCCACACTGGTCACGA	0.517000													12	27					0	0	0.105934	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002483	69002483	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:69002483G>A	ENST00000295381.3	+	2	611	c.192G>A	c.(190-192)caG>caA	p.Q64Q	ARHGAP25_ENST00000497079.1_Silent_p.Q57Q|ARHGAP25_ENST00000467265.1_Silent_p.Q64Q|ARHGAP25_ENST00000409202.3_Silent_p.Q64Q|ARHGAP25_ENST00000409220.1_Silent_p.Q57Q|ARHGAP25_ENST00000409030.3_Silent_p.Q57Q|ARHGAP25_ENST00000544262.1_Silent_p.Q38Q|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	64	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAACTGGCAGCAGAGGTACT	0.567000													4	226					0	0	0.009096	0	0
RBL1	5933	broad.mit.edu	37	20	35695270	35695270	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:35695270G>A	ENST00000373664.3	-	6	769	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	RBL1_ENST00000344359.3_Missense_Mutation_p.H235Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	235					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGCAGTATGAAAATCAGAT	0.383000													20	72					0	0	0.069288	0	0
CFAP54	144535	broad.mit.edu	37	12	97136306	97136306	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:97136306C>G	ENST00000524981.3	+	19	2514	c.2514C>G	c.(2512-2514)tgC>tgG	p.C838W				Q6ZTY8	CL063_HUMAN		812										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGTTGAGGTGCCGCTTAGCAT	0.343000													7	39					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179412921	179412921	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179412921C>T	ENST00000589042.1	-	339	93656	c.93432G>A	c.(93430-93432)cgG>cgA	p.R31144R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R22204R|TTN_ENST00000460472.2_Silent_p.R22079R|TTN_ENST00000342175.6_Silent_p.R22271R|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.R28576R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R29503R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29503	Ig-like 139.						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)			AGCCAGTGATCCGGCTGCCTC	0.493000													75	201					0	0	0.048971	0	0
UBR3	130507	broad.mit.edu	37	2	170897435	170897435	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170897435C>T	ENST00000272793.5	+	32	4650	c.4600C>T	c.(4600-4602)Cat>Tat	p.H1534Y	UBR3_ENST00000418381.1_Missense_Mutation_p.H1534Y|UBR3_ENST00000392631.1_Missense_Mutation_p.H355Y			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1534					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AATTCTTTATCATGATGTAAC	0.328000													22	46					0	0	0.083992	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													4	125					0	0	0.021553	0	0
BAI2	576	broad.mit.edu	37	1	32210289	32210289	+	Silent	SNP	C	C	T	rs138537223	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:32210289C>T	ENST00000373658.3	-	5	1223	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BAI2_ENST00000373655.2_Silent_p.P294P|BAI2_ENST00000527361.1_Silent_p.P294P|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000398542.1_Silent_p.P282P|BAI2_ENST00000398538.1_Silent_p.P282P|BAI2_ENST00000398547.1_Silent_p.P282P|BAI2_ENST00000257070.4_Silent_p.P294P|BAI2_ENST00000398556.3_Silent_p.P297P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	294					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCAGACCTCGGCCACTGGG	0.627000													11	36					0	0	0.020292	0	0
STAC3	246329	broad.mit.edu	37	12	57642941	57642941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:57642941C>G	ENST00000332782.2	-	3	418	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.E34Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	73	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						tcctcctcctcctcttcttcc	0.542000													25	67					0	0	0.108266	0	0
FOLH1	2346	broad.mit.edu	37	11	49186311	49186311	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:49186311C>T	ENST00000340334.7	-	14	1709	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	FOLH1_ENST00000256999.2_Silent_p.L462L|FOLH1_ENST00000343844.4_Silent_p.L154L|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Silent_p.L447L|FOLH1_ENST00000356696.3_Silent_p.L462L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	462	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATCAACTCTCAGAGTGTAGT	0.294000													8	24					0	0	0.047766	0	0
MGAT3	4248	broad.mit.edu	37	22	39883475	39883475	+	Silent	SNP	C	C	T	rs145462426	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39883475C>T	ENST00000341184.6	+	2	338	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	41	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGCCTCCCTCAGCCCTAACC	0.602000													66	300					0	0	0.048971	0	0
CPEB4	80315	broad.mit.edu	37	5	173359491	173359491	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:173359491C>T	ENST00000265085.5	+	3	2700	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000334035.5_Intron|CPEB4_ENST00000522336.1_Silent_p.L34L|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	416							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGATAGCTCTCTGCTTATTAA	0.353000													20	63					0	0	0.062417	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152041	11152041	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11152041C>T	ENST00000358026.2	+	31	4609	c.4325C>T	c.(4324-4326)tCa>tTa	p.S1442L	SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1377L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1410L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1380L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1377L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1410L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1380L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1410					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGAAATCATCACGGAAGCGC	0.607000			"""F, N, Mis"""		NSCLC								105	61					0	0	0.048971	0	0
TBL3	10607	broad.mit.edu	37	16	2025598	2025598	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2025598G>C	ENST00000568546.1	+	10	1002	c.874G>C	c.(874-876)Ggg>Cgg	p.G292R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	292					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCGGGCCCTGGGCAGGAGCT	0.697000													7	24					0	0	0.058154	0	0
MALSU1	115416	broad.mit.edu	37	7	23349102	23349102	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23349102C>A	ENST00000466681.1	+	4	798	c.645C>A	c.(643-645)ttC>ttA	p.F215L		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	215						mitochondrion											CTGAAGACTTCATTCTTGGAA	0.363000													20	70					7.45023e-12	8.01541e-12	0.055883	1	0
TEX29	121793	broad.mit.edu	37	13	111980540	111980540	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:111980540T>C	ENST00000283547.1	+	3	198	c.69T>C	c.(67-69)gtT>gtC	p.V23V		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	23						integral to membrane											TGTGTGACGTTCCTCTGTATG	0.542000													25	77					0	0	0.108266	0	0
TRIM58	25893	broad.mit.edu	37	1	248028108	248028108	+	Silent	SNP	G	G	A	rs147052726		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:248028108G>A	ENST00000366481.3	+	3	666	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	206						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGGAGGCGGAGGAGCGAG	0.622000													21	40					0	0	0.076483	0	0
MRPL53	116540	broad.mit.edu	37	2	74699368	74699368	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:74699368G>A	ENST00000258105.7	-	3	878	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	MRPL53_ENST00000409710.1_Missense_Mutation_p.S35L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	73						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						ATAATCAGGCGATGCCCGTCT	0.682000													11	36					0	0	0.080935	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:43944794G>A	ENST00000389420.3	-	2	370	c.371C>T	c.(370-372)tCg>tTg	p.S124L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	124						proteinaceous extracellular matrix	zinc ion binding	p.S124*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667000													3	23					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55826607	55826607	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55826607G>C	ENST00000373965.2	-	19	2545	c.2151C>G	c.(2149-2151)gtC>gtG	p.V717V	PCDH15_ENST00000395430.1_Silent_p.V710V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V688V|PCDH15_ENST00000395438.1_Silent_p.V710V|PCDH15_ENST00000373955.1_Silent_p.V710V|PCDH15_ENST00000395432.2_Silent_p.V673V|PCDH15_ENST00000361849.3_Silent_p.V710V|PCDH15_ENST00000437009.1_Silent_p.V639V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Silent_p.V717V|PCDH15_ENST00000409834.1_Silent_p.V321V|PCDH15_ENST00000414778.1_Silent_p.V715V|PCDH15_ENST00000373957.3_Silent_p.V688V|PCDH15_ENST00000320301.6_Silent_p.V710V|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	710	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTGTCATTGACATCTGTCA	0.373000										HNSCC(58;0.16)			16	65					0	0	0.038395	0	0
SLX4	84464	broad.mit.edu	37	16	3632510	3632510	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:3632510C>T	ENST00000294008.3	-	15	5978	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1780	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCCTGCAGCTCCCGCAGCTCA	0.647000								Direct reversal of damage					30	136					0	0	0.059317	0	0
FAM117A	81558	broad.mit.edu	37	17	47797212	47797212	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:47797212G>A	ENST00000240364.2	-	5	697	c.618C>T	c.(616-618)ctC>ctT	p.L206L	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	206										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGCAGGGGCTGAGTCGCAAGA	0.602000													7	77					0	0	0.038147	0	0
TSR3	115939	broad.mit.edu	37	16	1399476	1399476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1399476C>A	ENST00000007390.2	-	6	1007	c.901G>T	c.(901-903)Gag>Tag	p.E301*		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		TTCCAAACCTCAGCCGGGGCC	0.597000													133	404					1.02779e-63	1.14935e-63	0.048971	1	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													4	172					0	0	0.009096	0	0
TRDN	10345	broad.mit.edu	37	6	123637620	123637620	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:123637620C>T	ENST00000334268.4	-	24	1809	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	TRDN_ENST00000398178.3_Missense_Mutation_p.E498K			Q13061	TRDN_HUMAN	triadin	498					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GACATCTTTTCATCTTTTTTA	0.328000													19	82					0	0	0.069288	0	0
PRDM16	63976	broad.mit.edu	37	1	3334404	3334404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:3334404G>T	ENST00000378398.3	+	12	2786	c.2704G>T	c.(2704-2706)Gag>Tag	p.E902*	PRDM16_ENST00000514189.1_Nonsense_Mutation_p.E902*|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Nonsense_Mutation_p.E903*|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E901*|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.E902*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E901*|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E902*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	902	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCAGCCATAGAGACCATGAC	0.592000			T	EVI1	"""MDS, AML"""								59	226					1.1362e-29	1.26154e-29	0.048971	1	0
PACS1	55690	broad.mit.edu	37	11	66009032	66009032	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:66009032C>T	ENST00000320580.4	+	22	2597	c.2564C>T	c.(2563-2565)tCa>tTa	p.S855L	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.S391L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	855					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTCTTCCGCTCAGTGCAGGTG	0.602000													13	74					0	0	0.105934	0	0
IRX5	10265	broad.mit.edu	37	16	54966471	54966471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:54966471C>T	ENST00000394636.4	+	2	648	c.311C>T	c.(310-312)gCg>gTg	p.A104V	IRX5_ENST00000558597.1_Missense_Mutation_p.A38V|IRX5_ENST00000320990.5_Missense_Mutation_p.A104V|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	104					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTTACGCGGCGCCCCTGGGA	0.662000													14	49					0	0	0.024245	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843268	40843268	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:40843268G>C	ENST00000264638.4	+	14	2390	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	725	Fibrinogen C-terminal.				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)		GAGCTGTGTGGACCCTGCCTT	0.612000													22	179					0	0	0.083992	0	0
TSKU	25987	broad.mit.edu	37	11	76507546	76507546	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:76507546G>A	ENST00000527881.1	+	2	1912	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TSKU_ENST00000333090.4_Missense_Mutation_p.E296K			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	296						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCCCTGCCTGAGGCGCTGCT	0.692000													5	56					0	0	0.080935	0	0
YIF1B	90522	broad.mit.edu	37	19	38800243	38800243	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:38800243G>A	ENST00000392124.3	-	1	320	c.6C>T	c.(4-6)gcC>gcT	p.A2A	YIF1B_ENST00000337679.8_Silent_p.A30A|YIF1B_ENST00000329420.8_Silent_p.A18A|YIF1B_ENST00000591755.1_Silent_p.A30A|YIF1B_ENST00000339413.6_Silent_p.A33A|YIF1B_ENST00000592694.1_Silent_p.A2A|YIF1B_ENST00000592246.1_Silent_p.A2A|YIF1B_ENST00000591784.1_Silent_p.A2A|YIF1B_ENST00000587361.1_5'UTR	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	33						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGGGGGTCGGCCATGCCCG	0.642000													4	11					0	0	0.014758	0	0
MACF1	23499	broad.mit.edu	37	1	39753073	39753073	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753073C>G	ENST00000564288.1	+	15	2401	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	MACF1_ENST00000361689.2_Missense_Mutation_p.H547D|MACF1_ENST00000545844.1_Missense_Mutation_p.H547D|MACF1_ENST00000372915.3_Missense_Mutation_p.H547D|MACF1_ENST00000567887.1_Missense_Mutation_p.H579D|MACF1_ENST00000539005.1_Missense_Mutation_p.H547D|MACF1_ENST00000317713.7_Missense_Mutation_p.H547D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	547					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCACCACTCATCTGAAAGC	0.498000													59	205					0	0	0.048971	0	0
FAM107B	83641	broad.mit.edu	37	10	14816385	14816385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:14816385G>C	ENST00000181796.2	-	1	511	c.278C>G	c.(277-279)tCa>tGa	p.S93*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGGTGACTTGAATTCCGATT	0.597000													53	118					0	0	0.048971	0	0
IL6ST	3572	broad.mit.edu	37	5	55253084	55253084	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:55253084C>G	ENST00000381298.2	-	9	1321	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D337H|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D337H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.D337H|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	337	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGATGGATCTATTTTATAC	0.279000			O		hepatocellular ca								13	112					0	0	0.033300	0	0
STAT1	6772	broad.mit.edu	37	2	191845388	191845388	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191845388G>A	ENST00000361099.3	-	19	1977	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	STAT1_ENST00000409465.1_Silent_p.N530N|STAT1_ENST00000392322.3_Silent_p.N530N|STAT1_ENST00000392323.2_Silent_p.N532N|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	530					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CGGGGCTGGCGTTAGGACCTA	0.433000													15	43					0	0	0.049695	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61917778	61917778	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61917778G>C	ENST00000370275.4	+	13	1226	c.1134G>C	c.(1132-1134)caG>caC	p.Q378H	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E307Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E254Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E186Q|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E299Q|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E233Q			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	0					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGGAAAGCAGAGGGCCCCTT	0.627000													5	32					0	0	0.014758	0	0
FAT2	2196	broad.mit.edu	37	5	150947251	150947251	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:150947251C>G	ENST00000261800.5	-	1	1254	c.1242G>C	c.(1240-1242)ttG>ttC	p.L414F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	414	Cadherin 3.				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)			TGGTGGTGATCAACCCAGTTC	0.512000													20	106					0	0	0.049695	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387649	41387649	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:41387649T>A	ENST00000301146.4	-	2	729	c.188A>T	c.(187-189)gAg>gTg	p.E63V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	63						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCATAGCACTCACTGAACTG	0.622000													3	15					0	0	0.004672	0	0
NRXN3	9369	broad.mit.edu	37	14	80130178	80130178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:80130178G>T	ENST00000281127.7	+	3	1366	c.487G>T	c.(487-489)Gag>Tag	p.E163*	NRXN3_ENST00000557594.1_Nonsense_Mutation_p.E163*|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.E795*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.E795*|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.E163*	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	163	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTCCATCAAAGAGGAGAGAAC	0.478000													8	40					0.000157383	0.000163679	0.038147	1	0
ZW10	9183	broad.mit.edu	37	11	113614714	113614714	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:113614714C>T	ENST00000200135.3	-	10	1465	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	441					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTGTTATCCTCATCAGGAGTG	0.333000													15	47					0	0	0.020292	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738005	62738005	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:62738005C>G	ENST00000369768.1	-	1	519	c.180G>C	c.(178-180)ctG>ctC	p.L60L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	60						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTTGCCAGTCAGCCCCACAG	0.607000													17	35					0	0	0.028581	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051188	126051188	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:126051188C>G	ENST00000318410.7	-	25	3317	c.2968G>C	c.(2968-2970)Gac>Cac	p.D990H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D842H	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	990					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTCAATGTCTGCTAGGAGA	0.398000													53	149					0	0	0.048971	0	0
DNMT3B	1789	broad.mit.edu	37	20	31380492	31380492	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:31380492C>G	ENST00000328111.2	+	9	1303	c.982C>G	c.(982-984)Cag>Gag	p.Q328E	DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q340E|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q328E|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q252E|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q286E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	328					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGGAGGACCAGCTGAAGCC	0.612000													22	64					0	0	0.055883	0	0
SORL1	6653	broad.mit.edu	37	11	121478812	121478812	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:121478812G>A	ENST00000260197.7	+	38	5295		c.e38-1		SORL1_ENST00000525532.1_Splice_Site|SORL1_ENST00000532694.1_Splice_Site|SORL1_ENST00000534286.1_Splice_Site|SORL1_ENST00000527934.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATTTGAAAAGGTGGCTGCGG	0.393000													26	21					0	0	0.034045	0	0
VPS52	6293	broad.mit.edu	37	6	33237329	33237329	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33237329G>C	ENST00000445902.2	-	5	528	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	104					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCACTCTCTTGAATATCTGAT	0.433000													27	90					0	0	0.091800	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528529	6528529	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:6528529G>C	ENST00000377748.1	-	21	3095	c.2598C>G	c.(2596-2598)ctC>ctG	p.L866L	PLEKHG5_ENST00000400915.3_Silent_p.L845L|PLEKHG5_ENST00000544978.1_Silent_p.L789L|PLEKHG5_ENST00000377725.1_Silent_p.L789L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000400913.1_Silent_p.L789L|PLEKHG5_ENST00000535355.1_Silent_p.L858L|PLEKHG5_ENST00000377732.1_Silent_p.L826L|PLEKHG5_ENST00000537245.1_Silent_p.L868L|PLEKHG5_ENST00000340850.5_Silent_p.L789L|PLEKHG5_ENST00000377737.2_Silent_p.L789L|PLEKHG5_ENST00000377728.3_Silent_p.L789L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTGGTGCTGAGAGAGGTCT	0.652000													12	39					0	0	0.024245	0	0
EHHADH	1962	broad.mit.edu	37	3	184910588	184910588	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:184910588G>A	ENST00000231887.3	-	7	1673	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	EHHADH_ENST00000456310.1_Missense_Mutation_p.S437F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	533	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTCTAGATTTCCAGCC	0.483000													23	63					0	0	0.069288	0	0
TTLL2	83887	broad.mit.edu	37	6	167754040	167754040	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:167754040C>T	ENST00000239587.5	+	3	740	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	218	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGAGTTATCTCGTGGGAGGGG	0.423000													24	69					0	0	0.069288	0	0
SRRM3	222183	broad.mit.edu	37	7	75894128	75894128	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:75894128G>C	ENST00000388802.4	+	9	929	c.720G>C	c.(718-720)aaG>aaC	p.K240N	SRRM3_ENST00000326382.8_Missense_Mutation_p.K240N					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACAAAGAgaagaagaggtaag	0.542000													11	43					0	0	0.069234	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054860	102054860	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:102054860G>A	ENST00000318222.3	-	8	1759	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PKD2L1_ENST00000338519.3_Silent_p.F384F|PKD2L1_ENST00000353274.3_Silent_p.F459F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	459					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGTTTTGTTGAAGCTGATGT	0.502000													26	140					0	0	0.037714	0	0
LGR6	59352	broad.mit.edu	37	1	202287946	202287946	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:202287946C>T	ENST00000367278.3	+	18	2604	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	LGR6_ENST00000255432.7_Missense_Mutation_p.R787W|LGR6_ENST00000439764.2_Missense_Mutation_p.R700W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	839						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						GGATGACCTTCGGCGGCTTCG	0.667000													34	118					0	0	0.092188	0	0
CPPED1	55313	broad.mit.edu	37	16	12758885	12758885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:12758885C>T	ENST00000381774.4	-	4	1043	c.803G>A	c.(802-804)gGa>gAa	p.G268E	CPPED1_ENST00000433677.2_Missense_Mutation_p.G126E|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	268							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGCTGGCATCCAATGGCAGA	0.562000													7	86					0	0	0.029380	0	0
GPR133	283383	broad.mit.edu	37	12	131593290	131593290	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:131593290G>A	ENST00000261654.5	+	18	2468	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	GPR133_ENST00000535015.1_Missense_Mutation_p.V669M|GPR133_ENST00000376682.4_Missense_Mutation_p.V323M|GPR133_ENST00000543617.1_Missense_Mutation_p.V156M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	637					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)		AGTGATGGCCGTGCTCCTACA	0.582000													53	197					0	0	0.048971	0	0
TMEM186	25880	broad.mit.edu	37	16	8890280	8890280	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:8890280C>G	ENST00000333050.6	-	2	204	c.171G>C	c.(169-171)tgG>tgC	p.W57C	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	57						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTAAAACATCCAGAATTTCT	0.522000													26	209					0	0	0.091800	0	0
BRCA1	672	broad.mit.edu	37	17	41256889	41256889	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41256889C>T	ENST00000357654.3	-	5	415	c.297G>A	c.(295-297)ttG>ttA	p.L99L	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Silent_p.L99L|BRCA1_ENST00000471181.2_Silent_p.L99L|BRCA1_ENST00000493795.1_Silent_p.L52L|BRCA1_ENST00000491747.2_Silent_p.L99L|BRCA1_ENST00000354071.3_Silent_p.L99L|BRCA1_ENST00000352993.3_Silent_p.L99L|BRCA1_ENST00000346315.3_Silent_p.L99L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Silent_p.L99L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	99					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTTACACTCCAAACCTGTGT	0.373000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			24	69					0	0	0.099896	0	0
GPR116	221395	broad.mit.edu	37	6	46826148	46826148	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46826148G>C	ENST00000283296.7	-	17	3780	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	GPR116_ENST00000265417.7_Silent_p.L1164L|GPR116_ENST00000545669.1_Silent_p.L593L|GPR116_ENST00000456426.2_Silent_p.L1022L|GPR116_ENST00000362015.4_Silent_p.L1164L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552000													18	39					0	0	0.033300	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709362	38709362	+	RNA	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:38709362C>G	ENST00000417039.1	-	0	696																											AGTCACTGTGCCAGCCCAGAA	0.552000													9	34					0	0	0.080935	0	0
NCOA3	8202	broad.mit.edu	37	20	46265274	46265274	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:46265274C>T	ENST00000372004.3	+	12	2360	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F	NCOA3_ENST00000341724.6_Missense_Mutation_p.S725F|NCOA3_ENST00000371997.3_Missense_Mutation_p.S725F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S715F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	715					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTATAACTTCTTGTGGGGAC	0.473000													22	64					0	0	0.083992	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408000													14	37					0	0	0.105934	0	0
PKP3	11187	broad.mit.edu	37	11	399093	399093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:399093C>G	ENST00000331563.2	+	5	1246	c.1170C>G	c.(1168-1170)taC>taG	p.Y390*		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	390					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCATCTACGACAACGCTG	0.597000													15	37					0	0	0.024245	0	0
PCDH15	65217	broad.mit.edu	37	10	55566626	55566626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55566626C>A	ENST00000373965.2	-	36	5162	c.4768G>T	c.(4768-4770)Gag>Tag	p.E1590*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1587*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTCTCCTCATGTGTCACT	0.488000										HNSCC(58;0.16)			18	311					5.3912e-06	5.64448e-06	0.038395	1	0
MCM7	4176	broad.mit.edu	37	7	99694942	99694942	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99694942C>G	ENST00000303887.5	-	10	1828	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	MCM7_ENST00000354230.3_Missense_Mutation_p.D219H|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	395	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCAGTCGATCAATGTATGAC	0.507000													13	53					0	0	0.105934	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758548	72758548	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72758548G>C	ENST00000377182.4	+	9	1834	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	406	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCCCTACCAGGAAACTTGCAG	0.423000													24	82					0	0	0.083992	0	0
IFT172	26160	broad.mit.edu	37	2	27680753	27680753	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27680753C>T	ENST00000260570.3	-	28	3169	c.3066G>A	c.(3064-3066)aaG>aaA	p.K1022K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1022					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGATGGTGCTTCCCTACCA	0.522000													22	58					0	0	0.069288	0	0
PTGDR2	11251	broad.mit.edu	37	11	60620857	60620857	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:60620857G>C	ENST00000332539.4	-	2	450	c.339C>G	c.(337-339)ctC>ctG	p.L113L		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	113					immune response	integral to plasma membrane	N-formyl peptide receptor activity										CGAACATGTTGAGAAAGAAGA	0.642000													3	9					0	0	0.004672	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408598	80408598	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:80408598C>A	ENST00000265080.4	+	14	2075	c.2008C>A	c.(2008-2010)Cgt>Agt	p.R670S		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	670	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R670C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCACACCTATCGTATTTTCAC	0.507000													4	200					0.000602214	0.000620102	0.014758	1	0
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498000													5	6					0	0	0.021553	0	0
C6	729	broad.mit.edu	37	5	41158799	41158799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:41158799G>A	ENST00000263413.3	-	13	2209	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	C6_ENST00000337836.5_Missense_Mutation_p.P649S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	649	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTCTGGAGGAACTGGCTGA	0.398000													10	64					0	0	0.058154	0	0
OBSCN	84033	broad.mit.edu	37	1	228432096	228432096	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:228432096A>G	ENST00000570156.2	+	12	3655	c.3581A>G	c.(3580-3582)cAg>cGg	p.Q1194R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1102R|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1102R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	138	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGGCCCAGACGGAGGTG	0.597000													9	87					0	0	0.047766	0	0
AGBL5	60509	broad.mit.edu	37	2	27278818	27278818	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27278818G>A	ENST00000360131.4	+	7	1336	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AGBL5_ENST00000323064.8_Missense_Mutation_p.E393K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	393					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAACAAACAGAGCCAGCAGA	0.522000													27	118					0	0	0.108266	0	0
AGBL2	79841	broad.mit.edu	37	11	47698947	47698947	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:47698947G>C	ENST00000525123.1	-	14	2308	c.2023C>G	c.(2023-2025)Cag>Gag	p.Q675E	AGBL2_ENST00000357610.3_Missense_Mutation_p.Q675E|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q675E|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000528244.1_Missense_Mutation_p.Q637E	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	675					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GCTAGACACTGAGTGAACTAT	0.318000													6	34					0	0	0.021553	0	0
STK31	56164	broad.mit.edu	37	7	23766884	23766884	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23766884G>C	ENST00000354639.3	+	5	669	c.205G>C	c.(205-207)Gat>Cat	p.D69H	STK31_ENST00000433467.2_Missense_Mutation_p.D92H|STK31_ENST00000355870.3_Missense_Mutation_p.D92H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D69H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	92							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						ATTTTCTGAAGATCAGTGTTG	0.308000													11	61					0	0	0.105934	0	0
SQSTM1	8878	broad.mit.edu	37	5	179260066	179260066	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:179260066G>A	ENST00000389805.4	+	6	967	c.789G>A	c.(787-789)ggG>ggA	p.G263G	SQSTM1_ENST00000402874.3_Silent_p.G179G|SQSTM1_ENST00000376929.3_Silent_p.G179G|SQSTM1_ENST00000510187.1_Silent_p.G263G|SQSTM1_ENST00000360718.5_Silent_p.G179G	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	263					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGAGGGAAAAGAAGCC	0.587000													5	76					0	0	0.014758	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289694	32289694	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:32289694A>T	ENST00000400246.1	+	39	4302	c.4160A>T	c.(4159-4161)aAg>aTg	p.K1387M	DEPDC5_ENST00000539165.1_Missense_Mutation_p.K204M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.K1287M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.K1356M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.K1378M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.K1387M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.K1365M|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.K1356M			O75140	DEPD5_HUMAN	DEP domain containing 5	1356					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTGAGATCAAGCTGCACTGG	0.537000													29	61					0	0	0.045705	0	0
WNK2	65268	broad.mit.edu	37	9	96054670	96054670	+	Missense_Mutation	SNP	G	G	A	rs140544829		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:96054670G>A	ENST00000297954.4	+	22	5128	c.5128G>A	c.(5128-5130)Gtc>Atc	p.V1710I	WNK2_ENST00000349097.3_Missense_Mutation_p.V1322I|WNK2_ENST00000395477.2_Missense_Mutation_p.V1673I|WNK2_ENST00000427277.2_Missense_Mutation_p.V1285I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Missense_Mutation_p.V37I			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGTCCCCAGCGTCCCCCAGGT	0.562000													75	93					0	0	0.048971	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370147	20370147	+	RNA	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:20370147G>C	ENST00000593655.1	-	0	199																											GAAAGACAAAGACAATTTTTG	0.428000													6	45					0	0	0.029380	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431093	26431093	+	RNA	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:26431093C>T	ENST00000466808.2	+	0	1447																											CAGAGAGATTCGACAGTCAGC	0.517000													16	138					0	0	0.043863	0	0
ZNF439	90594	broad.mit.edu	37	19	11978656	11978656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11978656C>T	ENST00000304030.2	+	3	972	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.R122*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGCTACCCATCGAATACATGA	0.383000													64	67					0	0	0.048971	0	0
DIAPH2	1730	broad.mit.edu	37	X	95993660	95993660	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:95993660C>G	ENST00000324765.8	+	3	588	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q70E|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q81E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	81					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TATTGATTCTCAAGTCGCGAT	0.323000													20	28					0	0	0.043863	0	0
FSD2	123722	broad.mit.edu	37	15	83455869	83455869	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455869C>G	ENST00000334574.8	-	2	455	c.274G>C	c.(274-276)Gat>Cat	p.D92H	FSD2_ENST00000541889.1_Missense_Mutation_p.D92H			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	92										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ATGTTTTCATCAACAAACTCA	0.448000													35	118					0	0	0.064281	0	0
NEDD9	4739	broad.mit.edu	37	6	11213915	11213915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:11213915C>T	ENST00000379446.5	-	2	224	c.58G>A	c.(58-60)Gag>Aag	p.E20K	NEDD9_ENST00000379433.5_Missense_Mutation_p.E20K|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.E20K	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	20	SH3.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCAGTTCCTCGGCACACTCT	0.522000													13	66					0	0	0.028581	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	12					0	0	0.004672	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10707720	10707720	+	Silent	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:10707720C>A	ENST00000379568.3	+	8	1104	c.813C>A	c.(811-813)atC>atA	p.I271I		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	271					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGTTTCATCAAAATGTGGA	0.343000													31	124					2.80507e-11	3.0075e-11	0.050027	1	0
FES	2242	broad.mit.edu	37	15	91428286	91428286	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:91428286C>T	ENST00000328850.3	+	2	153	c.11C>T	c.(10-12)tCt>tTt	p.S4F	FES_ENST00000450438.2_Missense_Mutation_p.S4F|FES_ENST00000444422.2_Missense_Mutation_p.S4F|FES_ENST00000394300.3_Missense_Mutation_p.S4F|FES_ENST00000414248.2_Missense_Mutation_p.S4F|FES_ENST00000394302.1_Missense_Mutation_p.S4F	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	4	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGGGCTTCTCTTCCGAGCTG	0.632000													56	206					0	0	0.048971	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43687329	43687329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:43687329G>T	ENST00000564079.1	+	10	1279	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	TUBGCP4_ENST00000399460.3_Nonsense_Mutation_p.E211*|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.E347*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	347					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATGGTAGAAGAATCCGATTT	0.413000													36	160					4.62619e-21	5.11834e-21	0.069456	1	0
NAIF1	203245	broad.mit.edu	37	9	130828916	130828916	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130828916G>A	ENST00000373078.4	-	1	684	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	155					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGAGGGTCCGAGGGCCACAG	0.652000													6	71					0	0	0.021553	0	0
LENG1	79165	broad.mit.edu	37	19	54662148	54662148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:54662148C>T	ENST00000222224.3	-	2	370	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	62										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTTCAAGCTCAGGCAGTGAG	0.527000													19	118					0	0	0.076483	0	0
BACE1	23621	broad.mit.edu	37	11	117186311	117186311	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:117186311C>G	ENST00000313005.6	-	1	661	c.201G>C	c.(199-201)ctG>ctC	p.L67L	BACE1_ENST00000528053.1_Silent_p.L67L|BACE1_ENST00000513780.1_Silent_p.L67L|BACE1_ENST00000445823.2_Silent_p.L67L|BACE1_ENST00000428381.2_Silent_p.L67L|BACE1_ENST00000514464.1_5'UTR	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	67					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ACTTGCCCCTCAGGTTGTCCA	0.711000													8	42					0	0	0.038147	0	0
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612000													5	19					0	0	0.069234	0	0
RPA1	6117	broad.mit.edu	37	17	1787118	1787118	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:1787118A>G	ENST00000254719.5	+	13	1364	c.1254A>G	c.(1252-1254)gaA>gaG	p.E418E		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	418					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTGACGCAGAAGGACAAGCCT	0.488000								Nucleotide excision repair (NER)					40	124					0	0	0.111260	0	0
C6orf106	64771	broad.mit.edu	37	6	34614570	34614570	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:34614570C>G	ENST00000374023.3	-	3	562	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Missense_Mutation_p.E33Q	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	107										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGCCAGGCCTCTGCCCCTGAG	0.458000													44	148					0	0	0.048971	0	0
COL5A3	50509	broad.mit.edu	37	19	10090711	10090711	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090711G>A	ENST00000264828.3	-	36	2702	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	873	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGCCTTGCAGACCAGGGAGG	0.602000													6	16					0	0	0.058154	0	0
RBM26	64062	broad.mit.edu	37	13	79940220	79940220	+	Missense_Mutation	SNP	G	G	A	rs143505765		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:79940220G>A	ENST00000438737.2	-	8	1686	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	RBM26_ENST00000267229.7_Missense_Mutation_p.P416S|RBM26_ENST00000438724.1_Missense_Mutation_p.P416S|RBM26_ENST00000461008.1_5'UTR			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	416	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAGCAGGAGGAGGCTGGTGA	0.438000													27	131					0	0	0.037714	0	0
CNOT11	55571	broad.mit.edu	37	2	101881353	101881353	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:101881353T>C	ENST00000289382.3	+	4	1042	c.879T>C	c.(877-879)atT>atC	p.I293I		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		CACTCCACATTTGTGAGGATG	0.488000													15	74					0	0	0.033300	0	0
MKLN1	4289	broad.mit.edu	37	7	131155605	131155605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:131155605G>A	ENST00000352689.6	+	16	1973	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MKLN1_ENST00000421797.2_Missense_Mutation_p.E553K|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	645					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTAGGTTTGAAGAAAAGGC	0.343000													13	49					0	0	0.105934	0	0
RIOK3	8780	broad.mit.edu	37	18	21047484	21047484	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr18:21047484G>T	ENST00000339486.3	+	7	1426	c.809G>T	c.(808-810)gGa>gTa	p.G270V	RIOK3_ENST00000581585.1_Missense_Mutation_p.G254V|RIOK3_ENST00000577501.1_Missense_Mutation_p.G270V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	270	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATGCATATGGAGGGAGGTAA	0.363000													17	64					7.05477e-17	7.69611e-17	0.033300	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42157954	42157954	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:42157954G>A	ENST00000444063.1	+	6	864	c.732G>A	c.(730-732)ttG>ttA	p.L244L	L3MBTL1_ENST00000418998.1_Silent_p.L312L|L3MBTL1_ENST00000373135.3_Silent_p.L244L|L3MBTL1_ENST00000373134.1_Silent_p.L244L|L3MBTL1_ENST00000427442.2_Silent_p.L312L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	244					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCATGAAGTTGGAAGGCATTG	0.537000													5	30					0	0	0.021553	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	77					0	0	0.004672	0	0
PTBP2	58155	broad.mit.edu	37	1	97235416	97235416	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:97235416G>C	ENST00000236228.6	+	4	355	c.273G>C	c.(271-273)ctG>ctC	p.L91L	PTBP2_ENST00000426398.2_Silent_p.L91L|PTBP2_ENST00000370198.1_Silent_p.L91L|PTBP2_ENST00000370197.1_Silent_p.L91L|PTBP2_ENST00000394184.3_Silent_p.L102L|PTBP2_ENST00000541987.1_Silent_p.L60L|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	91	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCTTATGCTGAAAGGAAAAA	0.368000													31	81					0	0	0.045705	0	0
TP53	7157	broad.mit.edu	37	17	7579698	7579698	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7579698A>C	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTGTCCTTACCAGAACGTT	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	70					0	0	0.020292	0	0
HTT	3064	broad.mit.edu	37	4	3219628	3219628	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:3219628C>T	ENST00000355072.5	+	52	7336	c.7191C>T	c.(7189-7191)atC>atT	p.I2397I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2397					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATCATCATCAGCCTGGCCC	0.567000													20	54					0	0	0.062417	0	0
PCDH8	5100	broad.mit.edu	37	13	53418853	53418853	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:53418853C>G	ENST00000377942.3	-	3	3258	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E922Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1019					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTACTTTCTCATAGACGCTC	0.577000													31	98					0	0	0.041601	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839692	27839692	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839692C>G	ENST00000328488.2	-	1	407	c.402G>C	c.(400-402)gaG>gaC	p.E134D		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTATGCCCTCTCCCCTCGGA	0.507000													23	233					0	0	0.083992	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755126	72755126	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72755126G>C	ENST00000377182.4	+	8	1677	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	354	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTTTACCAAGATAAAGAAGG	0.453000													28	115					0	0	0.041601	0	0
GSTO1	9446	broad.mit.edu	37	10	106014946	106014946	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:106014946G>A	ENST00000369713.5	+	2	254	c.60G>A	c.(58-60)ccG>ccA	p.P20P	GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000369710.4_Silent_p.P20P|GSTO1_ENST00000493946.1_3'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GGCCGGTCCCGGAGGGCTCGA	0.687000													18	46					0	0	0.055883	0	0
MYO7B	4648	broad.mit.edu	37	2	128384562	128384562	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:128384562C>G	ENST00000389524.4	+	31	4203	c.4150C>G	c.(4150-4152)Cag>Gag	p.Q1384E	MYO7B_ENST00000409090.1_Missense_Mutation_p.Q237E|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1384E|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1384E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1384	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCCATACACTCAGAAGCAAGT	0.597000													6	15					0	0	0.021553	0	0
CES1	1066	broad.mit.edu	37	16	55844472	55844472	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:55844472C>G	ENST00000422046.2	-	11	1550	c.1269G>C	c.(1267-1269)gtG>gtC	p.V423V	CES1_ENST00000361503.4_Silent_p.V424V|CES1_ENST00000360526.3_Silent_p.V425V			P23141	EST1_HUMAN	carboxylesterase 1	424					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CACCAAACATCACATCTGCTA	0.498000													35	112					0	0	0.069456	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348114	131348114	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:131348114G>A	ENST00000372739.3	+	19	2758	c.2648G>A	c.(2647-2649)cGg>cAg	p.R883Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R883Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R883Q	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	883					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCCCAGCGTCGGCAGGACCTG	0.562000													27	83					0	0	0.091800	0	0
BORA	79866	broad.mit.edu	37	13	73320742	73320742	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:73320742G>A	ENST00000390667.5	+	10	1072	c.975G>A	c.(973-975)tcG>tcA	p.S325S	BORA_ENST00000377815.3_Silent_p.S255S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	325					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ATGGCTGCTCGCCAATTAAAA	0.393000													22	102					0	0	0.099896	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561343	52561343	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52561343G>C	ENST00000307076.4	-	10	1375	c.975C>G	c.(973-975)atC>atG	p.I325M	NT5DC2_ENST00000459839.1_Missense_Mutation_p.I337M|NT5DC2_ENST00000422318.2_Missense_Mutation_p.I362M|NT5DC2_ENST00000307092.4_Missense_Mutation_p.I266M	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	325							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAAGCGGGTGATCCGGTCCC	0.612000													25	37					0	0	0.041601	0	0
PSME4	23198	broad.mit.edu	37	2	54112830	54112830	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:54112830G>A	ENST00000404125.1	-	41	4867	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.F748F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1604					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTTACCTTGAAAAACAAAG	0.363000													9	34					0	0	0.058154	0	0
CDH18	1016	broad.mit.edu	37	5	19571716	19571716	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:19571716C>G	ENST00000507958.1	-	10	2215	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	CDH18_ENST00000511273.1_Missense_Mutation_p.D409H|CDH18_ENST00000506372.1_Missense_Mutation_p.D409H|CDH18_ENST00000382275.1_Missense_Mutation_p.D409H|CDH18_ENST00000502796.1_Missense_Mutation_p.D409H|CDH18_ENST00000274170.4_Missense_Mutation_p.D409H			Q13634	CAD18_HUMAN	cadherin 18, type 2	409	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCAGGATCTTGTGCCAAA	0.393000													23	69					0	0	0.069288	0	0
NUP62CL	54830	broad.mit.edu	37	X	106391016	106391016	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:106391016C>T	ENST00000372466.4	-	8	805	c.554G>A	c.(553-555)tGa>tAa	p.*185*	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	0					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						TATGGGCATTCAGAATTCTGC	0.358000													39	48					0	0	0.045515	0	0
INCENP	3619	broad.mit.edu	37	11	61906207	61906207	+	Missense_Mutation	SNP	G	G	A	rs140202170		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:61906207G>A	ENST00000394818.3	+	6	1340	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	INCENP_ENST00000278849.4_Missense_Mutation_p.E380K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	380					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCCCCCGAGGAGGCTGA	0.632000													13	47					0	0	0.024245	0	0
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:77283442C>G	ENST00000388914.3	-	12	2009	c.1857G>C	c.(1855-1857)aaG>aaC	p.K619N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393000													30	143					0	0	0.059317	0	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													5	236					0	0	0.058154	0	0
DGKZ	8525	broad.mit.edu	37	11	46394220	46394220	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:46394220A>G	ENST00000454345.1	+	13	1753	c.1628A>G	c.(1627-1629)gAc>gGc	p.D543G	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.D332G|DGKZ_ENST00000527911.1_Missense_Mutation_p.D355G|DGKZ_ENST00000532868.2_Missense_Mutation_p.D359G|DGKZ_ENST00000528615.1_Missense_Mutation_p.D133G|DGKZ_ENST00000456247.2_Missense_Mutation_p.D354G|DGKZ_ENST00000421244.2_Missense_Mutation_p.D355G|DGKZ_ENST00000395574.3_Missense_Mutation_p.D321G|DGKZ_ENST00000343674.6_Missense_Mutation_p.D371G	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	543	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCGGGGGCGACGGCACGGTG	0.662000													13	24					0	0	0.105934	0	0
KLHL23	151230	broad.mit.edu	37	2	170592202	170592202	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170592202C>G	ENST00000392647.2	+	2	922	c.678C>G	c.(676-678)atC>atG	p.I226M	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I226M	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	226	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TGAGCTATATCAACATTGATA	0.388000													9	38					0	0	0.069234	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641670	121641670	+	Nonsense_Mutation	SNP	C	C	T	rs145317059	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:121641670C>T	ENST00000489711.1	+	9	1217	c.829C>T	c.(829-831)Cga>Tga	p.R277*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.R246*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	277					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CATTCCAAAGCGACAGCACTG	0.428000													21	36					0	0	0.062417	0	0
PFKM	5213	broad.mit.edu	37	12	48526696	48526696	+	Nonsense_Mutation	SNP	C	C	T	rs121918195		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:48526696C>T	ENST00000340802.6	+	7	720	c.496C>T	c.(496-498)Cga>Tga	p.R166*	PFKM_ENST00000359794.5_Nonsense_Mutation_p.R95*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.R95*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.R95*|PFKM_ENST00000312352.7_Nonsense_Mutation_p.R95*|PFKM_ENST00000551804.1_Nonsense_Mutation_p.R95*	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	95					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTTCGGGAACGAGAAGGACG	0.567000													8	40					0	0	0.038147	0	0
TRPV3	162514	broad.mit.edu	37	17	3436163	3436163	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:3436163C>T	ENST00000301365.4	-	8	984	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TRPV3_ENST00000576742.1_Missense_Mutation_p.E285K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E285K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	285						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCCGTCTGCTCGTGCTCCATC	0.602000													11	20					0	0	0.069234	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685629	125685629	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597000													14	29					0	0	0.105934	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880947	53880947	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:53880947C>T	ENST00000547035.1	-	2	433	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77T|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACACTGTTGGCAAAAGGCTCA	0.652000													9	38					0	0	0.047766	0	0
OR4A5	81318	broad.mit.edu	37	11	51411717	51411717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:51411717G>A	ENST00000319760.6	-	1	731	c.679C>T	c.(679-681)Cag>Tag	p.Q227*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTCTTTTCCTGACTGTAAGTT	0.423000													8	88					0	0	0.038147	0	0
MEP1A	4224	broad.mit.edu	37	6	46793145	46793145	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46793145G>A	ENST00000230588.4	+	8	702	c.693G>A	c.(691-693)aaG>aaA	p.K231K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	231	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACAGCCAAGATCCCTGAGT	0.428000													23	59					0	0	0.076483	0	0
GARNL3	84253	broad.mit.edu	37	9	130111290	130111290	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130111290G>T	ENST00000373387.4	+	17	1871	c.1519G>T	c.(1519-1521)Gat>Tat	p.D507Y	GARNL3_ENST00000314904.5_Missense_Mutation_p.D507Y|GARNL3_ENST00000435213.2_Missense_Mutation_p.D485Y	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	507	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTTTCCACTGATGCTGGCGT	0.502000													22	71					1.55469e-16	1.68425e-16	0.083992	1	0
GART	2618	broad.mit.edu	37	21	34903798	34903798	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:34903798C>T	ENST00000381831.3	-	6	857	c.594G>A	c.(592-594)gtG>gtA	p.V198V	GART_ENST00000381815.4_Silent_p.V198V|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Silent_p.V198V|GART_ENST00000381839.3_Silent_p.V198V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	198	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TACATACCGACACCTCTTCTC	0.363000													39	195					0	0	0.104719	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657755	46657755	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:46657755C>T	ENST00000253255.5	-	1	1464	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	489	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)		TTATAGAAATCACGGCTTGCA	0.378000													59	293					0	0	0.048971	0	0
SOX6	55553	broad.mit.edu	37	11	16007886	16007886	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:16007886C>T	ENST00000352083.6	-	15	2124	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SOX6_ENST00000528252.1_Missense_Mutation_p.E656K|SOX6_ENST00000396356.3_Missense_Mutation_p.E663K|SOX6_ENST00000528429.1_Missense_Mutation_p.E683K|SOX6_ENST00000527619.1_Missense_Mutation_p.E659K|SOX6_ENST00000316399.6_Missense_Mutation_p.E663K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	683					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGGTACTTCTCTAAGTGGATC	0.443000													49	122					0	0	0.048971	0	0
OCRL	4952	broad.mit.edu	37	X	128710497	128710497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:128710497C>T	ENST00000371113.4	+	18	2248	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R695*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	695					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGACCAATCCGAGAAGTTCC	0.403000													12	22					0	0	0.093190	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671180	112671180	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:112671180C>G	ENST00000441065.2	+	3	582	c.270C>G	c.(268-270)ctC>ctG	p.L90L	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY.						zinc ion binding	p.L90L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGGAGGAGCTCCGGCATTTTC	0.527000													4	55					0	0	0.009096	0	0
ELTD1	64123	broad.mit.edu	37	1	79387472	79387472	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:79387472C>A	ENST00000370742.3	-	9	1147		c.e9-1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTGACCTGAAAAAAAG	0.353000													7	34					1.26484e-09	1.35148e-09	0.038147	1	0
NFKBIL1	4795	broad.mit.edu	37	6	31516144	31516144	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:31516144G>A	ENST00000376148.4	+	2	376	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G88R	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	88					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCTTCGGCTCGGGGCTGACCC	0.697000													5	13					0	0	0.014758	0	0
UMOD	7369	broad.mit.edu	37	16	20348623	20348623	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:20348623T>C	ENST00000396134.2	-	9	1952	c.1829A>G	c.(1828-1830)aAg>aGg	p.K610R	UMOD_ENST00000396138.4_Missense_Mutation_p.K626R|UMOD_ENST00000570689.1_Missense_Mutation_p.K577R|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.K610R|UMOD_ENST00000396142.2_Missense_Mutation_p.K577R|UMOD_ENST00000302509.4_Missense_Mutation_p.K577R	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	577					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGCTTGCACTTTTCATTCAT	0.473000													13	28					0	0	0.105934	0	0
STMN2	11075	broad.mit.edu	37	8	80577108	80577108	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:80577108G>A	ENST00000220876.7	+	5	921	c.539G>A	c.(538-540)tGa>tAa	p.*180*	STMN2_ENST00000518491.1_Silent_p.*169*|STMN2_ENST00000518111.1_3'UTR	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	0					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTGTCTGGCTGAAGCAAGGGA	0.483000													11	24					0	0	0.093190	0	0
DNAJB4	11080	broad.mit.edu	37	1	78470899	78470899	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:78470899G>C	ENST00000370763.5	+	1	362	c.105G>C	c.(103-105)aaG>aaC	p.K35N	DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	35	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATCCGGACAAGAACAAATCTC	0.373000													3	118					0	0	0.004672	0	0
CCDC57	284001	broad.mit.edu	37	17	80151991	80151991	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:80151991C>T	ENST00000392347.1	-	5	679	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CCDC57_ENST00000392343.3_Missense_Mutation_p.E215K|CCDC57_ENST00000389641.4_Missense_Mutation_p.E215K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	215										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCAGAGCCTCCAGCTCTTTG	0.517000													21	114					0	0	0.076483	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs143849195	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:153043109C>T	ENST00000341611.2	-	2	269	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000368755.2_Silent_p.P69P|SPRR2B_ENST00000368752.4_Silent_p.P69P	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532000													60	176					0	0	0.048971	0	0
ACTR2	10097	broad.mit.edu	37	2	65492283	65492283	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:65492283T>C	ENST00000260641.5	+	8	1145	c.988T>C	c.(988-990)Ttg>Ctg	p.L330L	ACTR2_ENST00000542850.1_Silent_p.L275L|ACTR2_ENST00000377982.4_Silent_p.L335L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	330					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AGAACGAGTTTTGAAGGGTGA	0.368000													43	122					0	0	0.042209	0	0
ARSD	414	broad.mit.edu	37	X	2838724	2838724	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:2838724G>A	ENST00000381154.1	-	4	432	c.357C>T	c.(355-357)aaC>aaT	p.N119N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	119						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGAGCCTGCGTTCCACTGAA	0.527000													18	17					0	0	0.038395	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999441	46999441	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:46999441G>C	ENST00000374314.4	+	1	1516	c.561G>C	c.(559-561)tgG>tgC	p.W187C	GPRIN2_ENST00000374317.1_Missense_Mutation_p.W187C			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	187										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						ACTCAGCCTGGATGCTGGGGG	0.627000													9	37					0	0	0.047766	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95497783	95497783	+	RNA	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:95497783T>C	ENST00000432432.2	-	0	1060					NR_040113.1																						TTCTGTTTCCTTTTTCATGCG	0.413000													4	395					0	0	0.021553	0	0
MCM8	84515	broad.mit.edu	37	20	5932702	5932702	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:5932702G>A	ENST00000378896.3	+	2	418	c.41G>A	c.(40-42)aGa>aAa	p.R14K	MCM8_ENST00000265187.4_Missense_Mutation_p.R14K|MCM8_ENST00000378883.1_Missense_Mutation_p.R14K|MCM8_ENST00000378886.2_Missense_Mutation_p.R14K	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	14					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GGACGAGGAAGATTTCAAAGC	0.413000													17	47					0	0	0.028581	0	0
EIF1	10209	broad.mit.edu	37	17	39846111	39846111	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:39846111G>C	ENST00000469257.1	+	2	259	c.113G>C	c.(112-114)aGa>aCa	p.R38T	EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Missense_Mutation_p.R38T|JUP_ENST00000540235.1_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	38					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATTCAACAGAGAAACGGCAGG	0.423000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	60					0	0	0.037714	0	0
KLHL6	89857	broad.mit.edu	37	3	183209891	183209891	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:183209891C>T	ENST00000341319.3	-	7	1725	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	564										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCCCGCCCGCCGGTGATGTAG	0.672000													30	78					0	0	0.037714	0	0
ANK1	286	broad.mit.edu	37	8	41557008	41557008	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:41557008C>G	ENST00000396942.1	-	23	2603	c.2520G>C	c.(2518-2520)gaG>gaC	p.E840D	ANK1_ENST00000265709.8_Missense_Mutation_p.E881D|ANK1_ENST00000289734.7_Missense_Mutation_p.E840D|ANK1_ENST00000396945.1_Missense_Mutation_p.E840D|ANK1_ENST00000379758.2_Missense_Mutation_p.E840D|ANK1_ENST00000352337.4_Missense_Mutation_p.E840D|ANK1_ENST00000347528.4_Missense_Mutation_p.E840D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	840					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTCCTTCTCTTCATCAA	0.577000													3	160					0	0	0.009096	0	0
FAM78B	149297	broad.mit.edu	37	1	166039589	166039589	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:166039589C>T	ENST00000338353.3	-	3	1264	c.675G>A	c.(673-675)cgG>cgA	p.R225R	FAM78B_ENST00000354422.3_Silent_p.R225R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	225										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGTTCCATCCGGCTCAGGA	0.627000													20	95					0	0	0.049695	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	13					0	0	0.021553	0	0
GIT1	28964	broad.mit.edu	37	17	27908398	27908398	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:27908398T>A	ENST00000225394.3	-	7	967	c.718_splice	c.e7-1	p.D240_splice	GIT1_ENST00000394869.3_Splice_Site_p.D240_splice|GIT1_ENST00000579937.1_Splice_Site_p.D240_splice|GIT1_ENST00000581348.1_Splice_Site_p.D240_splice|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	240					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATTCTTGTGATCTGAACAAAA	0.547000													17	53					0	0	0.033300	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414577	85414577	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:85414577G>A	ENST00000295886.4	-	3	1190	c.969C>T	c.(967-969)gaC>gaT	p.D323D	NKX6-1_ENST00000515820.2_Silent_p.D49D	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	323	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612000													29	80					0	0	0.045705	0	0
SF3B3	23450	broad.mit.edu	37	16	70597814	70597814	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:70597814A>G	ENST00000302516.5	+	18	2535	c.2324A>G	c.(2323-2325)aAt>aGt	p.N775S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	775					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGTCTTCAATCAAGTAGCC	0.428000													38	85					0	0	0.074837	0	0
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:48390446C>G	ENST00000224600.4	-	1	545	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	144	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L144L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCATCATGCTCAGCACCTCCT	0.642000													19	76					0	0	0.049695	0	0
CA10	56934	broad.mit.edu	37	17	49713219	49713219	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:49713219C>T	ENST00000451037.2	-	7	1726	c.786G>A	c.(784-786)atG>atA	p.M262I	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.M262I|CA10_ENST00000570565.1_Missense_Mutation_p.M187I|CA10_ENST00000285273.4_Missense_Mutation_p.M262I|CA10_ENST00000340813.6_Missense_Mutation_p.M268I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	262					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AACTCACCTGCATCCTGGTTA	0.393000													15	43					0	0	0.049695	0	0
PTPRN	5798	broad.mit.edu	37	2	220167381	220167381	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:220167381C>G	ENST00000295718.2	-	5	796	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	PTPRN_ENST00000423636.2_Missense_Mutation_p.E96Q|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.E186Q	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	186					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCAGGTGCTCCAAGAGAGGC	0.627000													11	41					0	0	0.020292	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769192	15769192	+	Silent	SNP	C	C	A	rs142036643	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:15769192C>A	ENST00000221307.7	+	10	1282	c.1234C>A	c.(1234-1236)Cgg>Agg	p.R412R	CYP4F3_ENST00000585846.1_Silent_p.R412R|CYP4F3_ENST00000586182.1_Silent_p.R412R|CYP4F3_ENST00000591058.1_Silent_p.R412R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	412					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCCAGACGGCCGGGTCATCCC	0.642000													14	85					0.00185496	0.00190377	0.105934	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773543	35773543	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:35773543C>T	ENST00000360215.1	+	1	473	c.96C>T	c.(94-96)ctC>ctT	p.L32L	LHFPL5_ENST00000373853.1_Silent_p.L32L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGGTACCCTCACCATCTGCT	0.587000													36	103					0	0	0.069456	0	0
SECISBP2	79048	broad.mit.edu	37	9	91973689	91973689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:91973689G>A	ENST00000375807.3	+	17	2586	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E766K|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E771K	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	839					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCTGGAGCTAGAAGAATCCTT	0.413000													7	41					0	0	0.038147	0	0
LANCL1	10314	broad.mit.edu	37	2	211319997	211319997	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:211319997C>T	ENST00000443314.1	-	3	583	c.241G>A	c.(241-243)Gac>Aac	p.D81N	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.D81N|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.D81N|LANCL1_ENST00000431941.2_Missense_Mutation_p.D81N|LANCL1_ENST00000233714.4_Missense_Mutation_p.D81N			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	81						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGGCAGGGTCCCCAAATACA	0.403000													18	47					0	0	0.049695	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529406	5529406	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:5529406A>G	ENST00000311659.4	-	2	1530	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	461										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAAAAAGATAAGGGAG	0.547000													9	53					0	0	0.058154	0	0
THSD7A	221981	broad.mit.edu	37	7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:11468681G>A	ENST00000423059.3	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11.					integral to membrane		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517000										HNSCC(18;0.044)			63	219					0	0	0.048971	0	0
PTBP3	9991	broad.mit.edu	37	9	114986137	114986137	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:114986137T>C	ENST00000334318.6	-	15	1848	c.1662A>G	c.(1660-1662)acA>acG	p.T554T	PTBP3_ENST00000374257.1_Silent_p.T523T|PTBP3_ENST00000458258.1_Silent_p.T557T|PTBP3_ENST00000343327.2_Silent_p.T456T|PTBP3_ENST00000374255.2_Silent_p.T551T	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	551					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										AAAGTCAGATTGTAGATTTTG	0.393000													68	76					0	0	0.048971	0	0
ITSN1	6453	broad.mit.edu	37	21	35093561	35093561	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:35093561C>G	ENST00000381318.3	+	3	395	c.107C>G	c.(106-108)tCt>tGt	p.S36C	ITSN1_ENST00000399326.3_Missense_Mutation_p.S36C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S36C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S36C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S36C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S36C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.S36C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S36C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S36C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S36C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S36C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S36C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	36	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAGCCAATATCTGGATTCATT	0.398000													19	68					0	0	0.043863	0	0
LRP5	4041	broad.mit.edu	37	11	68197131	68197131	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:68197131C>G	ENST00000294304.7	+	17	3832	c.3726C>G	c.(3724-3726)gtC>gtG	p.V1242V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1242	EGF-like 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATGCCCAGTCCACCTCGTGC	0.582000													16	101					0	0	0.024245	0	0
MMEL1	79258	broad.mit.edu	37	1	2523445	2523445	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2523445C>G	ENST00000288709.6	-	22	2302	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	MMEL1_ENST00000502556.1_Missense_Mutation_p.E540Q|MMEL1_ENST00000378412.3_Missense_Mutation_p.E697Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	697					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGCCACCCTCTGCCATCCAC	0.627000													28	48					0	0	0.099896	0	0
ABCB9	23457	broad.mit.edu	37	12	123444339	123444339	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:123444339C>T	ENST00000542678.1	-	2	3282	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ABCB9_ENST00000442833.2_Silent_p.E148E|ABCB9_ENST00000344275.7_Silent_p.E148E|ABCB9_ENST00000442028.2_Silent_p.E148E|ABCB9_ENST00000280560.8_Silent_p.E148E|ABCB9_ENST00000346530.5_Silent_p.E148E|ABCB9_ENST00000540285.1_Silent_p.E148E|ABCB9_ENST00000392439.3_Silent_p.E148E			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	148					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCGCCCCTGGCTCCAGGGCCT	0.692000													9	28					0	0	0.047766	0	0
PLEC	5339	broad.mit.edu	37	8	145011230	145011230	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:145011230C>A	ENST00000322810.4	-	5	932	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	PLEC_ENST00000354958.2_Missense_Mutation_p.V96L|PLEC_ENST00000527096.1_Missense_Mutation_p.V145L|PLEC_ENST00000398774.2_Missense_Mutation_p.V86L|PLEC_ENST00000356346.3_Missense_Mutation_p.V104L|PLEC_ENST00000345136.3_Missense_Mutation_p.V118L|PLEC_ENST00000357649.2_Missense_Mutation_p.V122L|PLEC_ENST00000436759.2_Missense_Mutation_p.V145L|PLEC_ENST00000354589.3_Missense_Mutation_p.V118L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	255	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGATGTTCACCAGCTTCACC	0.642000													50	67					1.07234e-20	1.18223e-20	0.048971	1	0
TANC1	85461	broad.mit.edu	37	2	160019983	160019983	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:160019983C>G	ENST00000263635.6	+	8	1109	c.872C>G	c.(871-873)tCa>tGa	p.S291*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.S185*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	291						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGAATCCTCAGCTGGAGAT	0.572000													19	51					0	0	0.043863	0	0
PGK1	5230	broad.mit.edu	37	X	77365367	77365367	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:77365367C>G	ENST00000373316.4	+	2	236	c.69C>G	c.(67-69)gtC>gtG	p.V23V	PGK1_ENST00000537456.1_5'UTR|PGK1_ENST00000442431.1_Silent_p.V23V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	23					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTTTTAGAGTCGACTTCAATG	0.383000													29	47					0	0	0.045705	0	0
PPIG	9360	broad.mit.edu	37	2	170493609	170493609	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493609G>A	ENST00000260970.3	+	14	2061	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	PPIG_ENST00000448752.2_Missense_Mutation_p.G614E|PPIG_ENST00000409714.3_Missense_Mutation_p.G599E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	614	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ACACCACCAGGAAGATCAAGA	0.463000													6	30					0	0	0.038147	0	0
ACPP	55	broad.mit.edu	37	3	132086633	132086633	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:132086633C>G	ENST00000351273.7	+	11	1274	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCGTGGACTCTGCTGGCAGA	0.483000													7	323					0	0	0.038147	0	0
MDGA2	161357	broad.mit.edu	37	14	47566311	47566311	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:47566311T>C	ENST00000426342.1	-	6	793	c.47A>G	c.(46-48)aAa>aGa	p.K16R	MDGA2_ENST00000357362.3_Missense_Mutation_p.K16R|MDGA2_ENST00000399232.2_Missense_Mutation_p.K314R|MDGA2_ENST00000439988.2_Missense_Mutation_p.K245R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	245					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CACCAAGAGTTTAATTGACGG	0.403000													51	83					0	0	0.048971	0	0
C9	735	broad.mit.edu	37	5	39341263	39341263	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:39341263C>T	ENST00000263408.4	-	4	556	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCTGCTGTTCGTGCCAGCTC	0.458000													40	90					0	0	0.039052	0	0
ABHD17A	81926	broad.mit.edu	37	19	1877366	1877366	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:1877366C>T	ENST00000292577.7	-	5	1199	c.766G>A	c.(766-768)Gag>Aag	p.E256K	ABHD17A_ENST00000250974.9_Missense_Mutation_p.E307K|ABHD17A_ENST00000590661.1_Silent_p.T224T	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		TCGATCACCTCGTCCTCCGTG	0.677000													3	17					0	0	0.004672	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133697	21133697	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:21133697G>C	ENST00000215727.5	+	2	380	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	SERPIND1_ENST00000406799.1_Missense_Mutation_p.E33Q|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	33					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GAAAGGAGGGGAAACTGCTCA	0.493000													9	65					0	0	0.058154	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944444	25944444	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944444C>G	ENST00000374332.4	+	1	486	c.156C>G	c.(154-156)ctC>ctG	p.L52L	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	52					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCAAGCGCCTCTTCCTGGCCC	0.697000													7	51					0	0	0.038147	0	0
PPIG	9360	broad.mit.edu	37	2	170493718	170493718	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493718G>C	ENST00000260970.3	+	14	2170	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	PPIG_ENST00000448752.2_Missense_Mutation_p.K650N|PPIG_ENST00000409714.3_Missense_Mutation_p.K635N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGAGAGTAAGAGCTCACACA	0.388000													10	63					0	0	0.069234	0	0
CIC	23152	broad.mit.edu	37	19	42799110	42799110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:42799110G>T	ENST00000572681.2	+	21	7380	c.7312G>T	c.(7312-7314)Gag>Tag	p.E2438*	CIC_ENST00000160740.3_Nonsense_Mutation_p.E1530*|CIC_ENST00000575354.2_Nonsense_Mutation_p.E1532*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCTGGAGCTGAGGCTCCTCT	0.667000			"""Mis, F, S"""		oligodendroglioma								7	37					0.00448238	0.00458526	0.047766	1	0
TTN	7273	broad.mit.edu	37	2	179599162	179599166	+	Frame_Shift_Del	DEL	ACAAG	ACAAG	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179599162_179599166delACAAG	ENST00000589042.1	-	52	15609_15613	c.15385_15389delCTTGT	c.(15385-15390)gfs	p.LV5129fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.LV4812fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.LV3885fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4812							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)			CTCCAGACACACAAGAGACTTCTGA	0.395													33	234	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113377167	113377168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:113377167_113377168insA	ENST00000316407.4	-	7	3771_3772	c.3361_3362insT	c.(3361-3363)tgafs	p.*1121fs	KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.*1121fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1121					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACAGCTGTCACATGTATTAGTT	0.455													41	163	---	---	---	---					
BTNL8	79908	broad.mit.edu	37	5	180375376	180375379	+	Splice_Site	DEL	GTAA	GTAA	-	rs10541574		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:180375376_180375379delGTAA	ENST00000231229.4	+	5	1172		c.e5+1		BTNL8_ENST00000505126.1_Splice_Site|BTNL8_ENST00000533815.2_Splice_Site|BTNL8_ENST00000511704.1_Splice_Site|BTNL8_ENST00000400707.3_Splice_Site|BTNL8_ENST00000508408.1_Intron|BTNL8_ENST00000340184.4_Splice_Site	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8							integral to membrane		p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGAACTGGGTAAGTATGTGTCA	0.554													4	3	---	---	---	---					
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)acfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398													8	202	---	---	---	---					
LSS	4047	broad.mit.edu	37	21	47626622	47626623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:47626622_47626623insC	ENST00000397728.3	-	16	1605_1606	c.1527_1528insG	c.(1525-1530)ggacttfs	p.L510fs	LSS_ENST00000356396.4_Frame_Shift_Ins_p.L510fs|LSS_ENST00000522411.1_Frame_Shift_Ins_p.L499fs|LSS_ENST00000457828.2_Frame_Shift_Ins_p.L430fs	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	510					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599													24	56	---	---	---	---					
