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
PAPPA2	60676	broad.mit.edu	37	1	176668453	176668453	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:176668453G>A	ENST00000367662.3	+	8	4128	c.2964G>A	c.(2962-2964)ctG>ctA	p.L988L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	988					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATCTTGCTGGAAAACAAGG	0.552000													14	74					0	0	0.000422831	0	0
TGM3	7053	broad.mit.edu	37	20	2290305	2290305	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:2290305C>T	ENST00000381458.5	+	2	73	c.10C>T	c.(10-12)Cta>Tta	p.L4L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	4					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTCACAGCTCTAGGAGTCCA	0.547000													5	76					0	0	3.59834e-05	0	0
FAM47C	442444	broad.mit.edu	37	X	37027834	37027834	+	Missense_Mutation	SNP	C	C	T	rs61730908	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:37027834C>T	ENST00000358047.3	+	1	1403	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.622000													11	19					0	0	0.000673444	0	0
SYN1	6853	broad.mit.edu	37	X	47436013	47436013	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:47436013G>T	ENST00000295987.7	-	7	988	c.864C>A	c.(862-864)ttC>ttA	p.F288L	SYN1_ENST00000340666.4_Missense_Mutation_p.F288L	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	288	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CGATGTCCTGGAAGTCATGCT	0.587000													7	23					8.12818e-05	0.00101863	8.12818e-05	1	0
DNAH2	146754	broad.mit.edu	37	17	7646342	7646342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:7646342C>T	ENST00000572933.1	+	12	3246	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R596*|DNAH2_ENST00000082259.3_Nonsense_Mutation_p.R678*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.R678*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	596	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGCTGGTTCGAAAAACCTT	0.537000													6	67					0	0	8.12818e-05	0	0
HSPG2	3339	broad.mit.edu	37	1	22157780	22157780	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:22157780G>A	ENST00000374695.3	-	84	11569	c.11490C>T	c.(11488-11490)atC>atT	p.I3830I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3830	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CATGGAAGACGATCTCCTCGC	0.677000													14	106					0	0	0.000219431	0	0
OR1I1	126370	broad.mit.edu	37	19	15198338	15198338	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:15198338C>T	ENST00000209540.2	+	1	548	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCACCAACCTCCAGTCTCTCA	0.562000													5	33					0	0	3.59834e-05	0	0
NPS	594857	broad.mit.edu	37	10	129347758	129347758	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:129347758T>C	ENST00000398023.1	+	2	34	c.14T>C	c.(13-15)gTa>gCa	p.V5A		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	5					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGCAGCTCAGTAAAACTCAAT	0.373000													7	45					0	0	0.000274275	0	0
THOC2	57187	broad.mit.edu	37	X	122801095	122801095	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:122801095G>A	ENST00000245838.8	-	11	1083	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	THOC2_ENST00000491737.1_Missense_Mutation_p.A236V|THOC2_ENST00000355725.4_Missense_Mutation_p.A351V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	351					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTTAATAAGGCTTCCAACAA	0.378000													11	17					0	0	0.00010058	0	0
MEFV	4210	broad.mit.edu	37	16	3304362	3304362	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:3304362C>T	ENST00000219596.1	-	2	745	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	236					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.G236R(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCATCTTTCCCGAGGGCAGG	0.627000													14	166					0	0	0.000308642	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228829	57228829	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:57228829C>T	ENST00000396721.2	-	2	208	c.78G>A	c.(76-78)atG>atA	p.M26I	SDR16C5_ENST00000303749.3_Missense_Mutation_p.M26I|SDR16C5_ENST00000522671.1_Missense_Mutation_p.M26I			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	26					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGGCAAAAATCATAGCCTCCA	0.448000													5	47					0	0	0.000602214	0	0
CISD2	493856	broad.mit.edu	37	4	103806372	103806372	+	Splice_Site	SNP	G	G	C			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:103806372G>C	ENST00000273986.4	+	2	210		c.e2-1		CISD2_ENST00000503643.1_Splice_Site|SLC9B1_ENST00000394789.3_3'UTR	NM_001008388.4	NP_001008389.1	Q8N5K1	CISD2_HUMAN	CDGSH iron sulfur domain 2						multicellular organismal aging|regulation of autophagy	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|protein complex	2 iron, 2 sulfur cluster binding|metal ion binding|protein homodimerization activity			endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		TACATGTTTAGTTTCAGAATG	0.403000													14	130					0	0	0.000219431	0	0
AEBP1	165	broad.mit.edu	37	7	44146195	44146195	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:44146195G>A	ENST00000223357.3	+	2	609	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	102	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAAAGACAAAGGCCCCAAGGT	0.577000													10	31					0	0	0.00010058	0	0
RARG	5916	broad.mit.edu	37	12	53621300	53621300	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:53621300C>T	ENST00000425354.2	-	3	517	c.30G>A	c.(28-30)gcG>gcA	p.A10A	RARG_ENST00000394426.1_Silent_p.A10A|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	10	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCACCAGCCGCAAAGAGTC	0.672000													5	20					0	0	0.000602214	0	0
PLEC	5339	broad.mit.edu	37	8	145024808	145024808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:145024808C>T	ENST00000322810.4	-	1	236	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	23	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						ACCATCACGCCCTCGCGGAAG	0.692000													5	30					0	0	3.59834e-05	0	0
ZMYM2	7750	broad.mit.edu	37	13	20567307	20567307	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr13:20567307G>A	ENST00000382869.3	+	3	346	c.95G>A	c.(94-96)gGa>gAa	p.G32E	ZMYM2_ENST00000382871.2_Missense_Mutation_p.G32E|ZMYM2_ENST00000382881.3_Missense_Mutation_p.G32E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.G32E	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.G32E(1)|p.G32R(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACGAATGTAGGAAACTCATTT	0.408000													8	60					0	0	0.000157383	0	0
DENND3	22898	broad.mit.edu	37	8	142178404	142178404	+	Silent	SNP	C	C	T	rs139726064		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:142178404C>T	ENST00000519811.1	+	13	2125	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	DENND3_ENST00000262585.2_Silent_p.A605A|DENND3_ENST00000424248.1_Silent_p.A553A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	605										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCATGTCTGCCCCTGAGTGGG	0.572000													10	100					0	0	0.000673444	0	0
PVALB	5816	broad.mit.edu	37	22	37211241	37211241	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:37211241C>T	ENST00000216200.5	-	3	155	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	PVALB_ENST00000404171.1_Missense_Mutation_p.V2I|PVALB_ENST00000417718.2_Missense_Mutation_p.V34I	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTCAGGCCGACCATTTGGAAG	0.517000													9	52					0	0	0.000442599	0	0
PAQR8	85315	broad.mit.edu	37	6	52268563	52268563	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:52268563C>T	ENST00000442253.2	+	2	726	c.552C>T	c.(550-552)gcC>gcT	p.A184A	PAQR8_ENST00000360726.3_Silent_p.A184A	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	184					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CAGCAGCTGCCTTCTGTGGCT	0.507000													45	100					0	0	0.000437636	0	0
CCKBR	887	broad.mit.edu	37	11	6292680	6292680	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:6292680C>T	ENST00000525462.1	+	4	1461	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	CCKBR_ENST00000334619.2_Silent_p.P417P|CCKBR_ENST00000532715.1_Silent_p.P333P			P32239	GASR_HUMAN	cholecystokinin B receptor	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCTCGCCCCAGGGCTCTTC	0.642000													9	58					0	0	0.000274275	0	0
HDAC11	79885	broad.mit.edu	37	3	13522850	13522850	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:13522850C>T	ENST00000295757.3	+	2	290	c.107C>T	c.(106-108)cCc>cTc	p.P36L	HDAC11_ENST00000404040.1_Missense_Mutation_p.P36L|HDAC11_ENST00000402259.1_Missense_Mutation_p.P36L|HDAC11_ENST00000402271.1_Missense_Mutation_p.P36L|HDAC11_ENST00000437379.2_Missense_Mutation_p.P8L|HDAC11_ENST00000433119.1_Missense_Mutation_p.P8L|HDAC11_ENST00000404548.1_Missense_Mutation_p.P36L|HDAC11_ENST00000522202.1_Missense_Mutation_p.P8L|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000405025.1_Missense_Mutation_p.P8L	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	36	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						AAGCTGCATCCCTTTGATGCC	0.542000													8	78					0	0	0.000442599	0	0
HLTF	6596	broad.mit.edu	37	3	148778438	148778438	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:148778438C>A	ENST00000310053.5	-	12	1470	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	HLTF_ENST00000392912.2_Missense_Mutation_p.R426M|HLTF_ENST00000465259.1_Missense_Mutation_p.R426M|HLTF_ENST00000494055.1_Missense_Mutation_p.R426M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	426					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCTTTCGCCCTGCCTTTAGT	0.323000													7	170					0.000157383	0.00195441	0.000157383	1	0
CRYBA4	1413	broad.mit.edu	37	22	27024386	27024386	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:27024386C>T	ENST00000354760.3	+	5	470	c.435C>T	c.(433-435)caC>caT	p.H145H	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	145	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCACGTCCACTCTGGGGCGT	0.552000													7	51					0	0	0.000274275	0	0
CIT	11113	broad.mit.edu	37	12	120241141	120241141	+	Silent	SNP	A	A	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:120241141A>G	ENST00000392521.2	-	10	1219	c.1164T>C	c.(1162-1164)ttT>ttC	p.F388F	CIT_ENST00000261833.7_Silent_p.F388F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	388	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGTTCATCAAAATTGGAGG	0.502000													12	117					0	0	0.000219431	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000													3	17					0	0	6.4e-05	0	0
DNAH6	1768	broad.mit.edu	37	2	84811252	84811252	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:84811252C>T	ENST00000389394.3	+	15	2496	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	DNAH6_ENST00000398278.2_Missense_Mutation_p.R787W|DNAH6_ENST00000237449.6_Missense_Mutation_p.R787W	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	787	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTTGCTGTTCGGAATGCCAT	0.393000													5	52					0	0	3.59834e-05	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712439	22712439	+	RNA	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:22712439G>A	ENST00000390294.2	+	0	238																											CAGCTCCCAGGAACGGCCCCC	0.572000													13	74					0	0	0.000219431	0	0
WDR72	256764	broad.mit.edu	37	15	53998206	53998206	+	Silent	SNP	A	A	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:53998206A>T	ENST00000396328.1	-	10	1259	c.1020T>A	c.(1018-1020)ctT>ctA	p.L340L	WDR72_ENST00000360509.5_Silent_p.L340L|WDR72_ENST00000557913.1_Silent_p.L337L|WDR72_ENST00000559418.1_Silent_p.L350L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	340										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCCAGAGAAAAGTACCTTGT	0.393000													7	26					0	0	0.000157383	0	0
OR1A2	26189	broad.mit.edu	37	17	3101267	3101267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:3101267G>A	ENST00000381951.1	+	1	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGGTGATTGGAAACACCAGT	0.493000													4	27					0	0	0.00024832	0	0
GCC1	79571	broad.mit.edu	37	7	127223349	127223349	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:127223349C>T	ENST00000321407.2	-	2	1471	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	349						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAGTTGATCCTCTGCAAGAG	0.507000													33	97					0	0	0.000491102	0	0
EDN1	1906	broad.mit.edu	37	6	12294286	12294286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:12294286G>A	ENST00000379375.5	+	3	613	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	116	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TAGCCAAAAAGACAAGAAGTG	0.448000													17	46					0	0	0.000566183	0	0
PER2	8864	broad.mit.edu	37	2	239184504	239184504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:239184504C>T	ENST00000254657.3	-	4	607	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PER2_ENST00000440245.1_Missense_Mutation_p.E110K|PER2_ENST00000254658.3_Missense_Mutation_p.E110K|PER2_ENST00000355768.2_Missense_Mutation_p.E110K	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	110					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTTATCAGTTCTTTGTGTGTG	0.507000													9	100					0	0	0.000274275	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460019	160460019	+	Silent	SNP	T	T	A	rs34289021		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:160460019T>A	ENST00000368059.3	-	5	834	c.765A>T	c.(763-765)ctA>ctT	p.L255L	SLAMF6_ENST00000368055.1_Silent_p.L144L|SLAMF6_ENST00000368057.3_Silent_p.L255L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	255						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAGACAAAGATAGGGAATCTG	0.493000													5	34					0	0	0.000602214	0	0
UBE3C	9690	broad.mit.edu	37	7	156979615	156979615	+	Silent	SNP	C	C	T	rs143608582		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:156979615C>T	ENST00000348165.5	+	10	1591	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	UBE3C_ENST00000389103.4_Silent_p.L368L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	411					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGCTCAACCTGGTGTGGAG	0.547000													5	25					0	0	0.000602214	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363023	22363023	+	RNA	SNP	C	C	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr14:22363023C>A	ENST00000390438.2	+	0	282																											TCCACCATATCTCTTCTGGTA	0.542000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					3.09899e-07	3.91964e-06	0.000274275	1	0
IFNA21	3452	broad.mit.edu	37	9	21166363	21166363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:21166363C>T	ENST00000380225.1	-	1	296	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	83					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTGCTGGATCATCTCATGGA	0.488000													6	40					0	0	3.59834e-05	0	0
FAM117B	150864	broad.mit.edu	37	2	203622021	203622021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:203622021C>T	ENST00000303116.6	+	6	1200	c.458C>T	c.(457-459)cCt>cTt	p.P153L	FAM117B_ENST00000392238.2_Missense_Mutation_p.P397L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	397										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACACAGACGCCTGGTGGGGCA	0.552000													10	168					0	0	0.000673444	0	0
UNC5B	219699	broad.mit.edu	37	10	73057761	73057761	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:73057761C>T	ENST00000335350.6	+	16	3002	c.2586C>T	c.(2584-2586)atC>atT	p.I862I	UNC5B_ENST00000373192.4_Silent_p.I851I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	862					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CACTGTCCATCCGCCAGAAGA	0.572000													5	49					0	0	0.000602214	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280764	32280764	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:32280764C>T	ENST00000360482.2	-	2	300	c.171G>A	c.(169-171)agG>agA	p.R57R	SPOCD1_ENST00000533231.1_Silent_p.R57R|SPOCD1_ENST00000373648.2_Silent_p.R57R|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	57					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGGATCTTCCTTCTGCTGC	0.637000													4	33					0	0	0.00024832	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012958	75012958	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:75012958G>A	ENST00000379727.3	-	7	1609	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	CYP1A1_ENST00000395048.2_Silent_p.L471L|CYP1A1_ENST00000395049.4_Silent_p.L442L|CYP1A1_ENST00000567032.1_Silent_p.L471L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	471					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGATAGCCAGGAAGAGAAAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				11	97					0	0	0.000673444	0	0
PET112	5188	broad.mit.edu	37	4	152679989	152679989	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:152679989G>A	ENST00000263985.6	-	2	302	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PET112_ENST00000512306.1_Missense_Mutation_p.R88C|PET112_ENST00000515812.1_Missense_Mutation_p.R88C|PET112_ENST00000508611.1_Missense_Mutation_p.R88C	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	88						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGAAAAGCGAACTTGAGAT	0.383000													7	92					0	0	0.000274275	0	0
MDN1	23195	broad.mit.edu	37	6	90365646	90365646	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:90365646G>A	ENST00000369393.3	-	92	15442	c.15327C>T	c.(15325-15327)tcC>tcT	p.S5109S	MDN1_ENST00000428876.1_Silent_p.S5109S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5109					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATCACCCATGGAACGTTCAT	0.532000													4	21					0	0	3.59834e-05	0	0
HTR7	3363	broad.mit.edu	37	10	92503376	92503376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:92503376G>A	ENST00000336152.3	-	3	1393	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	HTR7_ENST00000371719.2_Intron|HTR7_ENST00000277874.6_Intron|HTR7_ENST00000371721.3_Intron	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	456					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATGGTCTGGAGATTGTAGCAC	0.488000													4	23					0	0	0.000602214	0	0
NPY4R	5540	broad.mit.edu	37	10	47087366	47087366	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:47087366C>T	ENST00000374312.1	+	3	1002	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	NPY4R_ENST00000395716.1_Silent_p.L195L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCTGGAGTTCCTGGCGGATAA	0.587000													5	136					0	0	3.59834e-05	0	0
SQRDL	58472	broad.mit.edu	37	15	45965882	45965882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:45965882G>A	ENST00000260324.7	+	5	923	c.537G>A	c.(535-537)tgG>tgA	p.W179*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.W179*|RP11-96O20.4_ENST00000564080.1_Nonsense_Mutation_p.W179*	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	179							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGAAGACATGGAAAGCTCTGC	0.433000													10	85					0	0	0.000673444	0	0
CLRN2	645104	broad.mit.edu	37	4	17528679	17528679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:17528679G>A	ENST00000511148.2	+	3	775	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	225						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAGGCCACGGTCACAGCTGA	0.512000													6	69					0	0	3.59834e-05	0	0
DNAH17	8632	broad.mit.edu	37	17	76440827	76440827	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:76440827G>A	ENST00000389840.5	-	71	11469	c.11345C>T	c.(11344-11346)tCt>tTt	p.S3782F	DNAH17_ENST00000585328.1_Missense_Mutation_p.S3791F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCGCTTGGCAGATCCTTCGAT	0.577000													5	59					0	0	0.000602214	0	0
CARD11	84433	broad.mit.edu	37	7	2959008	2959008	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:2959008G>A	ENST00000396946.4	-	18	2911	c.2508C>T	c.(2506-2508)agC>agT	p.S836S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	836					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCCTCACCGGCTGTAGCTGG	0.607000			Mis		DLBCL								8	73					0	0	0.000978159	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330593	42330593	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:42330593G>A	ENST00000262418.6	-	17	2359	c.2204C>T	c.(2203-2205)gCc>gTc	p.A735V		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	735	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGGGCGTTGGCATGGGTGAC	0.642000													6	43					0	0	3.59834e-05	0	0
MEGF8	1954	broad.mit.edu	37	19	42861644	42861644	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:42861644C>T	ENST00000334370.4	+	27	5353	c.4718C>T	c.(4717-4719)tCc>tTc	p.S1573F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S1640F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1640						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGGTTACTCCCCGGAAAAT	0.662000													7	53					0	0	8.12818e-05	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349981	134349981	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:134349981C>T	ENST00000275230.5	-	2	1137	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	328						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGCTAATGACCTTGACGACT	0.488000													5	26					0	0	0.000602214	0	0
TSKS	60385	broad.mit.edu	37	19	50251672	50251672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:50251672C>T	ENST00000246801.3	-	3	536	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	152							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTGGTCTTTTCCTTCAAGCTG	0.562000													8	84					0	0	0.000673444	0	0
UPB1	51733	broad.mit.edu	37	22	24896102	24896102	+	Silent	SNP	C	C	T	rs9620392		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:24896102C>T	ENST00000326010.5	+	2	476	c.132C>T	c.(130-132)ttC>ttT	p.F44F	UPB1_ENST00000382760.2_Silent_p.F44F|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	44					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGGAAGCTTTCGAAGCTGCCT	0.527000													6	90					0	0	0.000157383	0	0
SETD2	29072	broad.mit.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:47144868G>A	ENST00000409792.3	-	7	4927	c.4885C>T	c.(4885-4887)Cac>Tac	p.H1629Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333000			"""N, F, S, Mis"""		clear cell renal carcinoma								7	47					0	0	0.000673444	0	0
AAR2	25980	broad.mit.edu	37	20	34832830	34832830	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:34832830C>T	ENST00000373932.3	+	3	1315	c.969C>T	c.(967-969)ttC>ttT	p.F323F	AAR2_ENST00000397286.3_Silent_p.F323F|AAR2_ENST00000320849.4_Silent_p.F323F	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AAGACAACTTCCTCACCAGCA	0.488000													10	26					0	0	0.000673444	0	0
TYW3	127253	broad.mit.edu	37	1	75198982	75198982	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:75198982G>A	ENST00000370867.3	+	1	143	c.54G>A	c.(52-54)gcG>gcA	p.A18A	TYW3_ENST00000421739.2_Silent_p.A18A|TYW3_ENST00000457880.2_Silent_p.A18A|TYW3_ENST00000479111.1_3'UTR|CRYZ_ENST00000417775.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	18					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TGAGCAAAGCGGACCTCAGCC	0.577000													4	26					0	0	0.00024832	0	0
ITIH2	3698	broad.mit.edu	37	10	7763636	7763636	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:7763636G>A	ENST00000358415.4	+	8	929	c.763G>A	c.(763-765)Gta>Ata	p.V255I	ITIH2_ENST00000379587.4_Missense_Mutation_p.V244I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	255					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAGCCCACGGTAGCACAGCA	0.567000													11	89					0	0	0.000978159	0	0
LRIT2	340745	broad.mit.edu	37	10	85981770	85981770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:85981770G>A	ENST00000372113.4	-	3	1564	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	LRIT2_ENST00000538192.1_Missense_Mutation_p.S530F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCTCTAAAGGAGCCATCCTT	0.597000													11	103					0	0	0.000978159	0	0
KDM2B	84678	broad.mit.edu	37	12	121970717	121970717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:121970717G>A	ENST00000377069.4	-	8	1238	c.832C>T	c.(832-834)Cct>Tct	p.P278S	KDM2B_ENST00000543852.1_Missense_Mutation_p.P78S|KDM2B_ENST00000536437.1_Missense_Mutation_p.P192S|KDM2B_ENST00000377071.4_Missense_Mutation_p.P309S|KDM2B_ENST00000538046.2_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	309	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTACCGGAAGGGATGAAAAAT	0.582000													13	64					0	0	0.000151284	0	0
LPCAT1	79888	broad.mit.edu	37	5	1477559	1477559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:1477559G>A	ENST00000283415.3	-	9	991	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	287					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TACAGCGCGGGGTTCCTCTTC	0.582000													8	61					0	0	0.000673444	0	0
LGI2	55203	broad.mit.edu	37	4	25005685	25005685	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:25005685G>A	ENST00000382114.4	-	8	1211	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	342						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGCTGTCTGCGATGACAAAGA	0.468000													10	35					0	0	0.000673444	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776698	159776698	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:159776698C>T	ENST00000393975.3	-	3	473	c.470G>A	c.(469-471)gGg>gAg	p.G157E		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	112	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTGACCCCCTTGGGGCC	0.687000													16	93					0	0	0.000422831	0	0
EP400	57634	broad.mit.edu	37	12	132547144	132547144	+	Silent	SNP	G	G	A	rs66689119		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:132547144G>A	ENST00000333577.4	+	48	8449	c.8340G>A	c.(8338-8340)caG>caA	p.Q2780Q	EP400_ENST00000389561.2_Silent_p.Q2744Q|EP400_ENST00000330386.6_Silent_p.Q2663Q|EP400_ENST00000332482.4_Silent_p.Q2707Q|EP400_ENST00000389562.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2780	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcaacagcagcagcagcaac	0.607000													8	42					0	0	0.000274275	0	0
SCAND3	114821	broad.mit.edu	37	6	28543374	28543374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:28543374C>T	ENST00000452236.2	-	3	1725	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	370	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAACTAACTTCCTTAATTGAT	0.343000													6	59					0	0	3.59834e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52198559	52198559	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:52198559G>A	ENST00000371471.2	-	2	1232	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF217_ENST00000302342.3_Silent_p.F269F			O75362	ZN217_HUMAN	zinc finger protein 217	269					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTCTCAAGTTGAACAACTGCA	0.547000													21	136					0	0	0.000175454	0	0
MCM10	55388	broad.mit.edu	37	10	13228249	13228249	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:13228249A>T	ENST00000378694.1	+	8	1259	c.1184A>T	c.(1183-1185)aAt>aTt	p.N395I	MCM10_ENST00000378714.3_Missense_Mutation_p.N395I|MCM10_ENST00000484800.2_Missense_Mutation_p.N396I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	396	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGAAGAAGAATGGAGAGCCG	0.428000													5	39					0	0	0.000602214	0	0
TNR	7143	broad.mit.edu	37	1	175332878	175332878	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:175332878G>A	ENST00000367674.1	-	13	3381	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	TNR_ENST00000263525.2_Silent_p.F891F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	891	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTAGTAATCGAAAGATGCAA	0.438000													8	52					0	0	0.000978159	0	0
FLG	2312	broad.mit.edu	37	1	152287815	152287815	+	Missense_Mutation	SNP	C	C	T	rs147859388	by1000genomes	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:152287815C>T	ENST00000368799.1	-	2	153	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	40	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAAATTCCTTTTCCAGA	0.328000									Ichthyosis				4	36					0	0	0.00024832	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:70885994G>A	ENST00000333538.5	+	5	1499	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCGGTACGAGAACTCGGC	0.587000													18	79					0	0	0.000566183	0	0
RPS3	6188	broad.mit.edu	37	11	75115750	75115750	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:75115750C>T	ENST00000531188.1	+	6	635	c.573C>T	c.(571-573)ccC>ccT	p.P191P	RPS3_ENST00000524851.1_Silent_p.P191P|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000527446.1_Silent_p.P191P|RPS3_ENST00000526608.1_Silent_p.P179P|RPS3_ENST00000278572.6_Silent_p.P207P|RPS3_ENST00000534440.1_Silent_p.P106P	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	191					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TCATGCTGCCCTGGGACCCAA	0.552000													7	58					0	0	0.000157383	0	0
FBLN7	129804	broad.mit.edu	37	2	112942830	112942830	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:112942830C>T	ENST00000331203.2	+	7	1132	c.861C>T	c.(859-861)tgC>tgT	p.C287C	FBLN7_ENST00000409450.3_Silent_p.C241C|FBLN7_ENST00000409667.3_Silent_p.C153C|FBLN7_ENST00000409903.1_Silent_p.C287C	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGACCACATGCATCAACACCG	0.577000													7	74					0	0	0.000157383	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396105	39396105	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:39396105C>T	ENST00000392079.3	+	3	551	c.453C>T	c.(451-453)tcC>tcT	p.S151S	NFKBIB_ENST00000572515.1_Silent_p.S183S|NFKBIB_ENST00000313582.5_Silent_p.S183S			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	183					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCGATTCCGACTTGGAGA	0.632000													6	58					0	0	0.000157383	0	0
THRA	7067	broad.mit.edu	37	17	38233777	38233777	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:38233777C>T	ENST00000450525.2	+	4	629	c.138C>T	c.(136-138)taC>taT	p.Y46Y	THRA_ENST00000264637.4_Silent_p.Y46Y|THRA_ENST00000584985.1_Silent_p.Y46Y|THRA_ENST00000546243.1_Silent_p.Y46Y|THRA_ENST00000394121.4_Silent_p.Y46Y	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	46	Modulating.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCCTAGTTACCTGGACAAAG	0.537000													10	98					0	0	0.000673444	0	0
TIFAB	497189	broad.mit.edu	37	5	134785454	134785454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:134785454G>A	ENST00000537858.1	-	2	376	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	59	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTCCAGGGACAGGTGACG	0.672000													5	48					0	0	0.000602214	0	0
FGR	2268	broad.mit.edu	37	1	27942078	27942078	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:27942078C>T	ENST00000374005.3	-	9	1173	c.885G>A	c.(883-885)ccG>ccA	p.P295P	FGR_ENST00000545953.1_Silent_p.P229P|FGR_ENST00000374004.1_Silent_p.P295P|FGR_ENST00000399173.1_Silent_p.P295P	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	295	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACATGGTGCCCGGCTTCAGCG	0.667000													6	32					0	0	8.12818e-05	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173339	81173339	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:81173339C>T	ENST00000394685.3	+	6	898	c.479C>T	c.(478-480)tCc>tTc	p.S160F	KIAA1199_ENST00000356249.5_Missense_Mutation_p.S160F|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S160F			Q8WUJ3	K1199_HUMAN	KIAA1199	160	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAAAAGCTCTCCTGGACATTT	0.493000													23	80					0	0	0.000295444	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308742	140308742	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:140308742C>T	ENST00000253807.2	+	1	2265	c.2265C>T	c.(2263-2265)ctC>ctT	p.L755L	PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L755L|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTTATCTCTATCGGGCCT	0.478000													10	88					0	0	0.000978159	0	0
MICALL2	79778	broad.mit.edu	37	7	1474304	1474304	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:1474304G>A	ENST00000297508.7	-	17	2818	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	MICALL2_ENST00000405088.4_Silent_p.L669L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	881						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCTTCCTCTGGAGGCCTAGGG	0.617000													12	72					0	0	0.000151284	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760843	70760843	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:70760843A>G	ENST00000258111.4	+	1	788	c.329A>G	c.(328-330)aAc>aGc	p.N110S		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	110					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTCCTGACCAACCCCAAGGTA	0.662000													7	44					0	0	8.12818e-05	0	0
DAGLA	747	broad.mit.edu	37	11	61511262	61511262	+	Missense_Mutation	SNP	C	C	A	rs150806850		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:61511262C>A	ENST00000257215.5	+	20	2546	c.2430C>A	c.(2428-2430)caC>caA	p.H810Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	810					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCAGCCTCCACGCTGTGCTGG	0.652000													14	146					4.93089e-13	6.29495e-12	0.000219431	1	0
ATP2C2	9914	broad.mit.edu	37	16	84456296	84456296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:84456296C>T	ENST00000416219.2	+	9	925	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ATP2C2_ENST00000262429.4_Missense_Mutation_p.A279V|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	279					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGATGCAGGCTGAAGAGGTA	0.478000													18	153					0	0	0.000958276	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524178	24524178	+	Missense_Mutation	SNP	G	G	A	rs146672556	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:24524178G>A	ENST00000376862.3	+	2	1078	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	149					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGTCCTACGATGTGGAGGA	0.547000													8	128					0	0	0.000274275	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	223					0	0	0.000602214	0	0
ASTN1	460	broad.mit.edu	37	1	176915101	176915101	+	Missense_Mutation	SNP	T	T	C	rs35946265	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:176915101T>C	ENST00000367654.2	-	13	2247	c.2234A>G	c.(2233-2235)aAg>aGg	p.K745R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.K737R|ASTN1_ENST00000424564.2_Missense_Mutation_p.K737R|ASTN1_ENST00000361833.2_Missense_Mutation_p.K737R			O14525	ASTN1_HUMAN	astrotactin 1	745					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCACTTCCTTGGAATGGTT	0.478000													14	112					0	0	0.000151284	0	0
AFAP1	60312	broad.mit.edu	37	4	7780517	7780517	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:7780517G>A	ENST00000420658.1	-	14	2141	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Silent_p.P539P|AFAP1_ENST00000382543.3_Silent_p.P623P|AFAP1_ENST00000358461.2_Silent_p.P539P	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	573	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAACAGCCGCGGGATCCGCTT	0.532000													21	192					0	0	0.000295444	0	0
CAPN10	11132	broad.mit.edu	37	2	241533417	241533417	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:241533417C>T	ENST00000391984.2	+	5	979	c.783C>T	c.(781-783)atC>atT	p.I261I	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.I261I|CAPN10_ENST00000354082.4_Silent_p.I261I|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.I261I	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	261	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCTGCGGATCCAGAACCCCT	0.697000													12	99					0	0	0.000151284	0	0
PCDH8	5100	broad.mit.edu	37	13	53420310	53420310	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr13:53420310G>A	ENST00000377942.3	-	1	2465	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	PCDH8_ENST00000338862.4_Silent_p.I754I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	754					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)		CGGCCAGCACGATGATGACGA	0.701000													8	114					0	0	0.000151284	0	0
CADPS2	93664	broad.mit.edu	37	7	121960249	121960249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:121960249C>T	ENST00000334010.7	-	28	4276	c.3855G>A	c.(3853-3855)atG>atA	p.M1285I	CADPS2_ENST00000313070.7_Missense_Mutation_p.M1246I|CADPS2_ENST00000412584.2_Missense_Mutation_p.M1246I|CADPS2_ENST00000449022.2_Missense_Mutation_p.M1287I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1287					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CACTGTCTTTCATAGTAATGC	0.423000													7	65					0	0	8.12818e-05	0	0
AMBN	258	broad.mit.edu	37	4	71467326	71467326	+	Silent	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:71467326G>A	ENST00000322937.6	+	6	589	c.486G>A	c.(484-486)ctG>ctA	p.L162L	AMBN_ENST00000449493.2_Silent_p.L147L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	162					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AACTGCCTCTGGTTCAGCAGC	0.512000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0	0	0.000602214	0	0
SHBG	6462	broad.mit.edu	37	17	7535032	7535032	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:7535032C>T	ENST00000380450.4	+	5	712	c.681C>T	c.(679-681)ctC>ctT	p.L227L	SHBG_ENST00000572262.1_Silent_p.L115L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Silent_p.L115L|SHBG_ENST00000441599.2_Silent_p.L227L|SHBG_ENST00000576478.1_Silent_p.L115L|SHBG_ENST00000575314.1_Silent_p.L169L|SHBG_ENST00000340624.5_Silent_p.L169L|SHBG_ENST00000416273.3_Silent_p.L227L|SHBG_ENST00000570547.1_Silent_p.L169L|SHBG_ENST00000574539.1_Silent_p.L169L|SHBG_ENST00000575903.1_Silent_p.L209L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	227	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGATATTTCTCCCTCCAGGGA	0.557000													17	223					0	0	0.000175454	0	0
SYN2	6854	broad.mit.edu	37	3	12224831	12224831	+	RNA	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:12224831C>T	ENST00000432424.2	+	0	1500							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTTAAGGATCCGGACTCAAGC	0.468000													16	179					0	0	0.00074312	0	0
FAM214B	80256	broad.mit.edu	37	9	35108141	35108141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:35108141G>A	ENST00000378561.1	-	2	3186	c.131C>T	c.(130-132)tCc>tTc	p.S44F	FAM214B_ENST00000603301.1_Missense_Mutation_p.S44F|FAM214B_ENST00000605244.1_Missense_Mutation_p.S44F|FAM214B_ENST00000378557.1_Missense_Mutation_p.S44F|FAM214B_ENST00000378554.2_Missense_Mutation_p.S44F|FAM214B_ENST00000322813.5_Missense_Mutation_p.S44F|FAM214B_ENST00000488109.2_Missense_Mutation_p.S44F|FAM214B_ENST00000378566.1_5'UTR			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	44						nucleus		p.S44F(1)									GACCCCGGGGGATGTCGCCCC	0.667000													4	14					0	0	0.00024832	0	0
CSE1L	1434	broad.mit.edu	37	20	47706113	47706113	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:47706113C>T	ENST00000262982.2	+	19	2134	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	CSE1L_ENST00000542325.1_Silent_p.L454L|CSE1L_ENST00000396192.3_Silent_p.L615L	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	671					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTCTTTGCTTCTGGAAACACA	0.408000													7	49					0	0	0.000274275	0	0
DDX4	54514	broad.mit.edu	37	5	55110772	55110772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:55110772C>T	ENST00000505374.1	+	20	1851	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DDX4_ENST00000511853.1_Missense_Mutation_p.R438C|DDX4_ENST00000353507.5_Missense_Mutation_p.R553C|DDX4_ENST00000354991.5_Missense_Mutation_p.R553C|DDX4_ENST00000514278.2_Missense_Mutation_p.R567C	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	587	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGATTTTCGCTTTGGAAA	0.403000													5	49					0	0	3.59834e-05	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958249	57958249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:57958249G>A	ENST00000311591.3	+	1	344	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCCAGGCTCGCTGTGCAGCT	0.592000													12	74					0	0	0.000219431	0	0
SRSF9	8683	broad.mit.edu	37	12	120903445	120903445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:120903445G>A	ENST00000229390.3	-	2	517	c.334C>T	c.(334-336)Cga>Tga	p.R112*		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	112	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						ACAAGAACTCGGAAATCAGAT	0.473000													8	65					0	0	0.000442599	0	0
XIRP1	165904	broad.mit.edu	37	3	39228016	39228016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:39228016G>A	ENST00000340369.3	-	2	3149	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L	XIRP1_ENST00000396251.1_Missense_Mutation_p.P974L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	974							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCAGTGGGGGAACATGGAT	0.667000													10	59					0	0	0.00010058	0	0
KATNB1	10300	broad.mit.edu	37	16	57787354	57787354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:57787354G>A	ENST00000379661.3	+	12	1492	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	367	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GAGGATGACCGGGACGAGCGC	0.667000													6	33					0	0	0.000157383	0	0
TBP	6908	broad.mit.edu	37	6	170871246	170871246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:170871246C>T	ENST00000392092.2	+	3	701	c.422C>T	c.(421-423)tCc>tTc	p.S141F	TBP_ENST00000540980.1_Missense_Mutation_p.S121F|TBP_ENST00000230354.6_Missense_Mutation_p.S141F	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	141					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CTGTATCCCTCCCCCATGACT	0.577000													7	35					0	0	0.000157383	0	0
FBP1	2203	broad.mit.edu	37	9	97382612	97382612	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:97382612C>T	ENST00000415431.1	-	3	561	c.333_splice	c.e3+1	p.R111_splice	FBP1_ENST00000375326.4_Splice_Site_p.R111_splice	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	111					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CAGACCCACCCTTTTCTCCGG	0.468000													12	54					0	0	0.000151284	0	0
TRIM39	56658	broad.mit.edu	37	6	30309586	30309586	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:30309586C>T	ENST00000376659.5	+	8	1615	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	TRIM39_ENST00000540416.1_Silent_p.L339L|TRIM39-RPP21_ENST00000513556.1_Silent_p.L251L|TRIM39_ENST00000376656.4_Silent_p.L369L|TRIM39_ENST00000396551.3_Silent_p.L339L|TRIM39_ENST00000396547.1_Silent_p.L369L|TRIM39_ENST00000396548.1_Silent_p.L339L	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCCGGGATCTCCCTGACACAC	0.567000													10	29					0	0	0.000978159	0	0
HEPH	9843	broad.mit.edu	37	X	65409641	65409641	+	Silent	SNP	C	C	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:65409641C>T	ENST00000519389.1	+	6	1265	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	HEPH_ENST00000336279.5_Silent_p.F41F|HEPH_ENST00000441993.2_Silent_p.F311F|HEPH_ENST00000374727.3_Silent_p.F311F|HEPH_ENST00000343002.2_Silent_p.F308F|HEPH_ENST00000419594.1_Silent_p.F311F			Q9BQS7	HEPH_HUMAN	hephaestin	308	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCATTTTTCCATGGACAGA	0.493000													4	12					0	0	0.00024832	0	0
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	3	---	---	---	---					
