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
SERPINA5	5104	broad.mit.edu	37	14	95054055	95054055	+	Missense_Mutation	SNP	A	A	T	rs144727156	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:95054055A>T	ENST00000329597.7	+	3	566	c.356A>T	c.(355-357)aAc>aTc	p.N119I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N119I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	119					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAGGAACTCAACCAGCCCAGA	0.567000													11	22					0	0	0.010729	0	0
GPC5	2262	broad.mit.edu	37	13	93518663	93518663	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:93518663G>C	ENST00000377067.3	+	8	2062	c.1690G>C	c.(1690-1692)Gtg>Ctg	p.V564L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	564						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTGATAAGTGTGGTGATGTT	0.433000													55	31					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136945	40136945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:40136945G>C	ENST00000278198.2	-	2	2861	c.898C>G	c.(898-900)Cac>Gac	p.H300D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	300					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAGGGTTGTGATGTAAATGT	0.478000													32	62					0	0	0.012213	0	0
CCR2	729230	broad.mit.edu	37	3	46399710	46399710	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:46399710G>T	ENST00000292301.4	+	2	1177	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CCR2_ENST00000445132.2_Missense_Mutation_p.R231L|CCR2_ENST00000400888.2_Missense_Mutation_p.R231L|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACCCTGCTTCGGTGTCGAAAC	0.453000													103	142					1.26289e-39	1.98454e-39	0.014410	1	0
EML5	161436	broad.mit.edu	37	14	89088975	89088975	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:89088975A>G	ENST00000554922.1	-	37	5234	c.4986T>C	c.(4984-4986)gaT>gaC	p.D1662D	EML5_ENST00000553320.1_Intron|EML5_ENST00000380664.5_Silent_p.D1654D|EML5_ENST00000352093.5_Silent_p.D1616D	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1654						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACGAACACAATCTGTGGCTT	0.473000													23	55					0	0	0.003954	0	0
FSCB	84075	broad.mit.edu	37	14	44974135	44974135	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:44974135G>A	ENST00000340446.4	-	1	2347	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	686						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCCTCAGCTGGTAGAGACTGA	0.597000													14	16					0	0	0.016723	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648784	62648784	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:62648784C>T	ENST00000337910.5	-	6	979	c.642G>A	c.(640-642)ctG>ctA	p.L214L	RHOBTB1_ENST00000357917.4_Silent_p.L214L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	214					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCAGAATTGCAGGTGCCTGC	0.473000													64	229					0	0	0.014410	0	0
VIT	5212	broad.mit.edu	37	2	37035846	37035846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37035846G>C	ENST00000379242.3	+	15	1923	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	VIT_ENST00000497382.1_Missense_Mutation_p.E195Q|VIT_ENST00000379241.3_Missense_Mutation_p.E504Q|VIT_ENST00000401530.1_Missense_Mutation_p.E505Q|VIT_ENST00000389975.3_Missense_Mutation_p.E526Q|VIT_ENST00000404084.1_Missense_Mutation_p.E478Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	526	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGAGTTTGAGATTTCCGA	0.582000													26	52					0	0	0.018920	0	0
HCAR3	8843	broad.mit.edu	37	12	123200755	123200755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:123200755C>T	ENST00000528880.2	-	1	684	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	177						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GAAGCTGATGCACACATTTGC	0.537000													29	53					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238249123	238249123	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238249123G>A	ENST00000295550.4	-	38	8888	c.8436C>T	c.(8434-8436)ttC>ttT	p.F2812F	COL6A3_ENST00000472056.1_Silent_p.F2205F|COL6A3_ENST00000353578.4_Silent_p.F2606F|COL6A3_ENST00000409809.1_Silent_p.F2606F|COL6A3_ENST00000346358.4_Silent_p.F2612F|COL6A3_ENST00000347401.3_Silent_p.F2611F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2812	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2812F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCCTCCCGAAGCGCATCA	0.547000													20	35					0	0	0.008871	0	0
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:62812713C>G	ENST00000512091.1	+	15	3044	c.2297C>G	c.(2296-2298)aCg>aGg	p.T766R	LPHN3_ENST00000506746.1_Missense_Mutation_p.T834R|LPHN3_ENST00000545650.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T834R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T834R|LPHN3_ENST00000514996.1_Missense_Mutation_p.T766R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T834R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T766R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.T834R|LPHN3_ENST00000514591.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T766R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508946.1_Missense_Mutation_p.T766R|LPHN3_ENST00000504896.1_Missense_Mutation_p.T766R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAGTTGGGAACGGAAGCTTTG	0.403000													59	140					0	0	0.014410	0	0
SPAG16	79582	broad.mit.edu	37	2	214794821	214794821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:214794821T>C	ENST00000331683.5	+	12	1447	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	SPAG16_ENST00000374309.3_Missense_Mutation_p.V357A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	451					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCAATTTTGTGGCTTCCTCC	0.423000													28	41					0	0	0.004656	0	0
GRIA1	2890	broad.mit.edu	37	5	153056599	153056599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056599G>C	ENST00000285900.5	+	7	1250	c.907G>C	c.(907-909)Gct>Cct	p.A303P	GRIA1_ENST00000448073.4_Missense_Mutation_p.A313P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A303P|GRIA1_ENST00000518783.1_Missense_Mutation_p.A313P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A223P|GRIA1_ENST00000521843.2_Missense_Mutation_p.A234P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	303					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATGGCTGAGGCTTTCCAGAG	0.562000													15	21					0	0	0.004007	0	0
PTPN1	5770	broad.mit.edu	37	20	49196356	49196356	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:49196356C>G	ENST00000371621.3	+	8	1155	c.981C>G	c.(979-981)ttC>ttG	p.F327L	PTPN1_ENST00000541713.1_Missense_Mutation_p.F254L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	327					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GCAGGGAGTTCTTCCCAAATC	0.572000											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	125					0	0	0.012213	0	0
PRDM11	56981	broad.mit.edu	37	11	45241231	45241231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:45241231G>A	ENST00000263765.4	+	7	1016	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R256Q|PRDM11_ENST00000424263.2_Missense_Mutation_p.R222Q|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	256	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGTGGCTGCGGGTCTGGTAC	0.622000													11	29					0	0	0.010729	0	0
CADPS2	93664	broad.mit.edu	37	7	122028668	122028668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:122028668C>T	ENST00000334010.7	-	21	3548	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.A999T|CADPS2_ENST00000449022.2_Missense_Mutation_p.A1045T|CADPS2_ENST00000412584.2_Missense_Mutation_p.A999T|RP5-1101C3.1_ENST00000593910.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1045	Interaction with DRD2.|MHD1.				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						ATATCACTGGCCATTAGTTTA	0.408000													6	7					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212530075	212530075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:212530075T>A	ENST00000342788.4	-	15	2154	c.1844A>T	c.(1843-1845)cAc>cTc	p.H615L	ERBB4_ENST00000402597.1_Missense_Mutation_p.H615L|ERBB4_ENST00000436443.1_Missense_Mutation_p.H615L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	615	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGCATGGGTGGCACTCCCG	0.473000										TSP Lung(8;0.080)			14	43					0	0	0.002450	0	0
HEATR5B	54497	broad.mit.edu	37	2	37232867	37232867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37232867C>A	ENST00000233099.5	-	30	4908	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.E1605*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1605							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGGGCTCCTCAGGTCTAGGG	0.408000													15	30					0.000308642	0.000329037	0.003163	1	0
TP53	7157	broad.mit.edu	37	17	7577143	7577143	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:7577143C>A	ENST00000420246.2	-	8	927	c.795G>T	c.(793-795)ctG>ctT	p.L265L	TP53_ENST00000445888.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Silent_p.L265L|TP53_ENST00000455263.2_Silent_p.L265L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTCCGTCCCAGTAGATTAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	13					5.18039e-06	5.77721e-06	0.003080	1	0
RAI14	26064	broad.mit.edu	37	5	34823148	34823148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:34823148C>T	ENST00000265109.3	+	15	1488	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	RAI14_ENST00000515799.1_Missense_Mutation_p.P404S|RAI14_ENST00000503673.1_Missense_Mutation_p.P401S|RAI14_ENST00000506376.1_Missense_Mutation_p.P393S|RAI14_ENST00000428746.2_Missense_Mutation_p.P401S|RAI14_ENST00000397449.1_Missense_Mutation_p.P394S|RAI14_ENST00000512629.1_Missense_Mutation_p.P372S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	401						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTGGGAAAACCTGGTGAAAC	0.453000													25	53					0	0	0.018920	0	0
INTS8	55656	broad.mit.edu	37	8	95863869	95863869	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:95863869A>G	ENST00000523731.1	+	13	1729	c.1596A>G	c.(1594-1596)ttA>ttG	p.L532L	INTS8_ENST00000447247.1_Silent_p.L532L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	532					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAATTGAATTACATGGTATGA	0.363000													19	45					0	0	0.006122	0	0
MAVS	57506	broad.mit.edu	37	20	3845384	3845384	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3845384C>T	ENST00000428216.2	+	6	1235	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	MAVS_ENST00000416600.2_Silent_p.L228L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	369					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGGTGCTCACCAAGGTGT	0.592000													25	63					0	0	0.005443	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090369	238090369	+	RNA	SNP	C	C	G	rs41308192	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:238090369C>G	ENST00000450451.1	+	0	1875					NR_027247.2																						CCAACTGGGACGACATGGAGA	0.607000													13	38					0	0	0.002450	0	0
NCAM1	4684	broad.mit.edu	37	11	113076802	113076802	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113076802C>A	ENST00000316851.7	+	4	498	c.498C>A	c.(496-498)atC>atA	p.I166I	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.I58I|NCAM1_ENST00000401611.2_Silent_p.I175I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	176	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACCTGCAGATCCGGGGCATCA	0.507000													25	153					5.35356e-11	6.92813e-11	0.016522	1	0
ATP8A1	10396	broad.mit.edu	37	4	42588439	42588439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:42588439C>A	ENST00000381668.5	-	9	880	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G217C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	217					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAATTCTGCCAGAAATCCTC	0.343000													14	35					0.00316338	0.00328557	0.003163	1	0
DCUN1D3	123879	broad.mit.edu	37	16	20873496	20873496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20873496G>T	ENST00000324344.3	-	2	650	c.365C>A	c.(364-366)cCc>cAc	p.P122H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P122H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AAATTCTGTGGGGTCAACACA	0.488000													31	91					3.80469e-20	5.7546e-20	0.009535	1	0
MAP3K5	4217	broad.mit.edu	37	6	136990474	136990474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:136990474A>G	ENST00000359015.4	-	8	1673	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	438					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAGGAGGAGGACCGCATA	0.388000													3	96					0	0	0.004672	0	0
PROL1	58503	broad.mit.edu	37	4	71275449	71275449	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:71275449T>G	ENST00000399575.2	+	3	578	c.404T>G	c.(403-405)cTt>cGt	p.L135R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	135	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCTATTTACCTTCCTATCTCT	0.433000													40	68					0	0	0.006230	0	0
TSIX	9383	broad.mit.edu	37	X	73048907	73048907	+	RNA	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:73048907T>G	ENST00000604411.1	+	0	36868				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACTTACTTCATTCAGCTATCC	0.458000													29	9					0	0	0.007291	0	0
PSMD11	5717	broad.mit.edu	37	17	30801833	30801833	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:30801833A>G	ENST00000261712.3	+	8	1103	c.840A>G	c.(838-840)gcA>gcG	p.A280A	PSMD11_ENST00000457654.2_Silent_p.A280A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	280	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TTCGGTATGCAGGGAGGCAGG	0.488000													3	47					0	0	0.004672	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751316	162751316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:162751316C>G	ENST00000375514.5	+	11	1552	c.1265C>G	c.(1264-1266)cCc>cGc	p.P422R	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P441R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P411R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P411R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P441R	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	441					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAGAGCCTCCCAAAAATGTT	0.328000													18	57					0	0	0.010504	0	0
RELN	5649	broad.mit.edu	37	7	103216153	103216153	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:103216153C>A	ENST00000428762.1	-	29	4305		c.e29-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGGTCTTGCTGTTGGGAAA	0.403000													16	165					5.01169e-05	5.4632e-05	0.004990	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													3	33					0	0	0.009096	0	0
ABI2	10152	broad.mit.edu	37	2	204255845	204255845	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:204255845T>A	ENST00000295851.4	+	5	853	c.557T>A	c.(556-558)aTg>aAg	p.M186K	ABI2_ENST00000261018.7_Missense_Mutation_p.M21K|ABI2_ENST00000424558.1_Missense_Mutation_p.M180K|ABI2_ENST00000422511.2_Missense_Mutation_p.M186K|ABI2_ENST00000261017.5_Missense_Mutation_p.M180K|ABI2_ENST00000261016.6_Missense_Mutation_p.M135K|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.M180K			Q9NYB9	ABI2_HUMAN	abl-interactor 2	186	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGTCCCCCTATGTCAGGGAAA	0.388000													5	22					0	0	0.001984	0	0
POLA2	23649	broad.mit.edu	37	11	65048604	65048604	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:65048604C>G	ENST00000265465.3	+	8	1417	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	POLA2_ENST00000541089.1_Missense_Mutation_p.L88V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	296					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGAATATTCTCTGTTTCCTGG	0.517000													36	122					0	0	0.017118	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357567	118357567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:118357567A>G	ENST00000528052.1	+	8	774	c.703A>G	c.(703-705)Acg>Gcg	p.T235A	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235A|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTTTTGGAACGAACCAACA	0.463000													23	15					0	0	0.014323	0	0
CUL3	8452	broad.mit.edu	37	2	225368493	225368493	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225368493A>C	ENST00000264414.4	-	9	1591	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	CUL3_ENST00000409096.1_Missense_Mutation_p.L394R|CUL3_ENST00000344951.4_Missense_Mutation_p.L352R|CUL3_ENST00000409777.1_Missense_Mutation_p.L394R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	418					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACCTAAAAAGGACCATTGC	0.303000													4	13					0	0	0.009096	0	0
CTNND2	1501	broad.mit.edu	37	5	11397162	11397162	+	Translation_Start_Site	SNP	G	G	A	rs141302945		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:11397162G>A	ENST00000458100.2	-	0	782				CTNND2_ENST00000511377.1_Missense_Mutation_p.T107M|CTNND2_ENST00000304623.8_Missense_Mutation_p.T198M|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.T198M			Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCTGGCCCGTAGCTCGGGC	0.607000													41	106					0	0	0.010771	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323300	57323300	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57323300T>C	ENST00000293502.1	-	3	741	c.598A>G	c.(598-600)Att>Gtt	p.I200V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	200						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGGCTCAATGATGCAGACT	0.552000													31	33					0	0	0.009535	0	0
ATP2C2	9914	broad.mit.edu	37	16	84492912	84492912	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:84492912C>T	ENST00000416219.2	+	23	2342	c.2253C>T	c.(2251-2253)acC>acT	p.T751T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.T751T|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	751					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						CTCTGTCCACCGTGTTCAACC	0.642000													26	73					0	0	0.007291	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604315	111604315	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:111604315G>T	ENST00000478922.1	+	2	1534	c.1391G>T	c.(1390-1392)aGg>aTg	p.R464M	PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000412622.1_Intron			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCATCTACAGGGCAGCCTTG	0.468000													14	31					6.72482e-11	8.65642e-11	0.003163	1	0
THAP7	80764	broad.mit.edu	37	22	21354710	21354710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:21354710C>T	ENST00000215742.4	-	4	563	c.389G>A	c.(388-390)gGc>gAc	p.G130D	THAP7_ENST00000399133.2_Missense_Mutation_p.G130D	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCCCTCGGCCCTCGGAGCA	0.622000													3	8					0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77403655	77403655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:77403655C>T	ENST00000451710.3	-	20	2779	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	TRPM6_ENST00000449912.2_Missense_Mutation_p.A843T|TRPM6_ENST00000376864.4_Missense_Mutation_p.A848T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A843T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A848T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	848					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCAAATACGCCATCTGTGAG	0.532000													6	30					0	0	0.001168	0	0
MED13	9969	broad.mit.edu	37	17	60028197	60028197	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:60028197G>T	ENST00000397786.2	-	28	6356	c.6280C>A	c.(6280-6282)Ctt>Att	p.L2094I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2094					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAAGAAAAAGGGGACACTGA	0.413000													4	72					0.00024832	0.0002659	0.009096	1	0
KIAA0754	643314	broad.mit.edu	37	1	39879476	39879476	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:39879476C>G	ENST00000530275.1	+	1	3326	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1044	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACCCCAGCAGAATCTGCC	0.662000													16	38					0	0	0.004990	0	0
TRPC3	7222	broad.mit.edu	37	4	122800901	122800901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:122800901C>G	ENST00000264811.5	-	11	2955	c.2537G>C	c.(2536-2538)aGa>aCa	p.R846T	TRPC3_ENST00000379645.3_Missense_Mutation_p.R919T|TRPC3_ENST00000513531.1_Missense_Mutation_p.R791T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	834					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCATTCACATCTCAGCATGCT	0.363000													14	35					0	0	0.003163	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873495	20873495	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20873495G>T	ENST00000324344.3	-	2	651	c.366C>A	c.(364-366)ccC>ccA	p.P122P	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.P122P	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GAAATTCTGTGGGGTCAACAC	0.483000													31	90					3.80469e-20	5.7546e-20	0.009535	1	0
NPR3	4883	broad.mit.edu	37	5	32783095	32783095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:32783095C>G	ENST00000265074.8	+	6	1730	c.1387C>G	c.(1387-1389)Cga>Gga	p.R463G	NPR3_ENST00000415167.2_Missense_Mutation_p.R463G|NPR3_ENST00000434067.2_Missense_Mutation_p.R247G|NPR3_ENST00000415685.2_Missense_Mutation_p.R247G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	463					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGATGAAAACCGAATTGTAGA	0.383000													6	19					0	0	0.001168	0	0
CNGA3	1261	broad.mit.edu	37	2	99012576	99012576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:99012576C>A	ENST00000393504.1	+	8	1360	c.943C>A	c.(943-945)Cac>Aac	p.H315N	CNGA3_ENST00000436404.2_Missense_Mutation_p.H297N|CNGA3_ENST00000272602.2_Missense_Mutation_p.H315N|CNGA3_ENST00000409937.1_Missense_Mutation_p.H319N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	315					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCATCATCCACTGGAATGC	0.478000													89	88					7.2861e-57	1.16002e-56	0.014410	1	0
SI	6476	broad.mit.edu	37	3	164758778	164758778	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164758778A>G	ENST00000264382.3	-	18	2171	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	703	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGGCTTTATAAAACAGAGTGT	0.348000										HNSCC(35;0.089)			27	74					0	0	0.005443	0	0
COL3A1	1281	broad.mit.edu	37	2	189849935	189849935	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:189849935C>A	ENST00000304636.3	+	3	465	c.295C>A	c.(295-297)Cct>Act	p.P99T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P99T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	99					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACTCGCCCTCCTAATGGTCA	0.343000													22	36					6.32553e-13	8.55183e-13	0.004656	1	0
OR7G2	390882	broad.mit.edu	37	19	9213869	9213869	+	Silent	SNP	C	C	T	rs141362700		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:9213869C>T	ENST00000305456.2	-	1	113	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATCCTCTATCAGTCCCAGGA	0.463000													20	42					0	0	0.008871	0	0
TAF4B	6875	broad.mit.edu	37	18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L|TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289000													9	13					0	0	0.008291	0	0
DPRX	503834	broad.mit.edu	37	19	54135364	54135364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:54135364C>A	ENST00000376650.1	+	1	55	c.4C>A	c.(4-6)Cca>Aca	p.P2T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTAGAAGATGCCAGGCTCAGA	0.498000													36	49					1.07637e-12	1.44711e-12	0.004878	1	0
AMPH	273	broad.mit.edu	37	7	38433765	38433765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:38433765G>A	ENST00000356264.2	-	18	1663	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.A441V|AMPH_ENST00000325590.5_Missense_Mutation_p.A441V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	483					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCCTCAGCTGCTGACACCAA	0.587000													55	66					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164781266	164781266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164781266A>G	ENST00000264382.3	-	8	933	c.871T>C	c.(871-873)Tca>Cca	p.S291P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	291	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACACCGAATGACTTTCCAGAT	0.259000										HNSCC(35;0.089)			8	42					0	0	0.010729	0	0
ACTN1	87	broad.mit.edu	37	14	69345204	69345204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:69345204C>T	ENST00000394419.4	-	20	2580	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	ACTN1_ENST00000538545.2_Missense_Mutation_p.A773T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A773T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A708T|ACTN1_ENST00000193403.6_Intron	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1	787	EF-hand 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATCAGGCAGGCGCGGAAATCA	0.602000													17	24					0	0	0.006122	0	0
TENM1	10178	broad.mit.edu	37	X	123515059	123515059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:123515059T>C	ENST00000422452.2	-	32	7589	c.7526A>G	c.(7525-7527)aAt>aGt	p.N2509S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.N2502S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCGTCCATCATTGTATCGGGG	0.463000													60	32					0	0	0.014410	0	0
PCDH10	57575	broad.mit.edu	37	4	134073619	134073619	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:134073619C>A	ENST00000264360.4	+	1	3150	c.2324C>A	c.(2323-2325)gCc>gAc	p.A775D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	775					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCAAGCCCGGGCGCGC	0.592000													13	26					0.00010058	0.000108662	0.013537	1	0
SLC5A12	159963	broad.mit.edu	37	11	26725200	26725200	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:26725200G>A	ENST00000396005.3	-	6	1008	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SLC5A12_ENST00000280467.6_Silent_p.L233L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	233					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGTGTCGCCTGAGAGGATCTA	0.403000													29	49					0	0	0.007291	0	0
LAMA2	3908	broad.mit.edu	37	6	129723502	129723502	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:129723502A>G	ENST00000421865.2	+	39	5645	c.5596A>G	c.(5596-5598)Atg>Gtg	p.M1866V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1866	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCCACCTATGTCTGAGGA	0.423000													13	21					0	0	0.013537	0	0
ITGA4	3676	broad.mit.edu	37	2	182395331	182395331	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:182395331G>C	ENST00000397033.2	+	24	3049	c.2619G>C	c.(2617-2619)ttG>ttC	p.L873F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	873					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCAGACCTTGAAAGGCATAG	0.413000													23	48					0	0	0.016522	0	0
MAP4K4	9448	broad.mit.edu	37	2	102475479	102475479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:102475479G>C	ENST00000413150.2	+	14	1472	c.1417G>C	c.(1417-1419)Gaa>Caa	p.E473Q	MAP4K4_ENST00000350198.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E453Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E326Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E326Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E473Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	473					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGACAGCTAGAAGAGGAGCA	0.502000													27	165					0	0	0.007291	0	0
COL12A1	1303	broad.mit.edu	37	6	75825753	75825753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:75825753C>T	ENST00000322507.8	-	48	7849	c.7540G>A	c.(7540-7542)Gat>Aat	p.D2514N	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1350N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2514	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGTAGCCATCCAAATAAATG	0.328000													4	30					0	0	0.014758	0	0
AAR2	25980	broad.mit.edu	37	20	34828211	34828211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:34828211A>T	ENST00000373932.3	+	2	767	c.421A>T	c.(421-423)Agc>Tgc	p.S141C	AAR2_ENST00000320849.4_Missense_Mutation_p.S141C|AAR2_ENST00000397286.3_Missense_Mutation_p.S141C	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CAACTTCATCAGCGAAGCCAC	0.567000													78	81					0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238283189	238283189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238283189G>T	ENST00000295550.4	-	8	3997	c.3545C>A	c.(3544-3546)cCg>cAg	p.P1182Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.P575Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.P976Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.P976Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.P982Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P981Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.P976Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P775Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1182	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAAAGTCCGGGATGAAGGA	0.622000													23	39					3.8784e-16	5.55369e-16	0.012319	1	0
CTNND2	1501	broad.mit.edu	37	5	10992676	10992676	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:10992676G>T	ENST00000304623.8	-	19	3387	c.3198C>A	c.(3196-3198)ccC>ccA	p.P1066P	CTNND2_ENST00000511377.1_Silent_p.P975P|CTNND2_ENST00000503622.1_Silent_p.P729P|CTNND2_ENST00000359640.2_Silent_p.P1008P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.P633P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1066					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCGGTTGTTGGGAGACACGC	0.592000													14	57					3.27435e-08	3.90342e-08	0.002450	1	0
POU3F4	5456	broad.mit.edu	37	X	82764275	82764275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:82764275C>T	ENST00000373200.2	+	1	1007	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	315					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCAGACAGCCTCCAGTTGGA	0.557000													11	9					0	0	0.010729	0	0
CEBPD	1052	broad.mit.edu	37	8	48649939	48649939	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:48649939C>A	ENST00000408965.3	-	1	1709	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	248	Leucine-zipper.		R -> W (in dbSNP:rs34948549).		transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TGAAGAACTGCCGGAGGCCGG	0.687000													11	30					1.58986e-06	1.78952e-06	0.008291	1	0
MYO3B	140469	broad.mit.edu	37	2	171259494	171259494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:171259494G>A	ENST00000334231.6	+	19	2293	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	MYO3B_ENST00000408978.4_Missense_Mutation_p.A756T|MYO3B_ENST00000409044.3_Missense_Mutation_p.A756T|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	756	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATGTTTTTGCTCTTGAGCA	0.398000													5	31					0	0	0.014758	0	0
ADRBK1	156	broad.mit.edu	37	11	67051732	67051732	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:67051732G>A	ENST00000308595.5	+	18	1832	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	514	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCACCATCTCGGAGCGGTGGC	0.592000													49	78					0	0	0.014410	0	0
ZRANB3	84083	broad.mit.edu	37	2	136107559	136107559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:136107559C>A	ENST00000401392.1	-	5	798	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.E196*|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.E196*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	196	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATACCTCTTCAGGCCTTCCT	0.408000													11	36					4.3838e-07	5.05181e-07	0.016723	1	0
IGLV3-9	28804	broad.mit.edu	37	22	23162156	23162156	+	RNA	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:23162156C>A	ENST00000390316.2	+	0	364																											TCTCTGGCTCCAACTCGGGGA	0.597000													17	58					1.5739e-10	1.99415e-10	0.004007	1	0
ANK2	287	broad.mit.edu	37	4	114290872	114290872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:114290872C>G	ENST00000357077.4	+	43	11574	c.11521C>G	c.(11521-11523)Ccg>Gcg	p.P3841A	ANK2_ENST00000509550.1_Missense_Mutation_p.P932A|ANK2_ENST00000264366.6_Missense_Mutation_p.P3808A|ANK2_ENST00000506722.1_Missense_Mutation_p.P1747A|ANK2_ENST00000510275.2_Missense_Mutation_p.P408A|ANK2_ENST00000394537.3_Missense_Mutation_p.P1756A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGAGCTCTCCGCGGAAAAC	0.537000													24	40					0	0	0.003954	0	0
CHD5	26038	broad.mit.edu	37	1	6172998	6172998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:6172998C>A	ENST00000262450.3	-	34	5072	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I	CHD5_ENST00000378021.1_Missense_Mutation_p.S515I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCCCCTCTGCTGTGGATCAA	0.592000													32	65					1.45844e-13	1.99402e-13	0.013726	1	0
SERPINA1	5265	broad.mit.edu	37	14	94845935	94845935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:94845935G>T	ENST00000448921.1	-	6	1503	c.931C>A	c.(931-933)Cat>Aat	p.H311N	SERPINA1_ENST00000402629.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.H311N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.H311N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	311					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTGGGTAAATGTAAGCTGGCA	0.493000													30	80					5.60225e-13	7.61654e-13	0.009535	1	0
LIPI	149998	broad.mit.edu	37	21	15561702	15561702	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:15561702C>A	ENST00000344577.2	-	2	173	c.148G>T	c.(148-150)Gta>Tta	p.V50L	LIPI_ENST00000536861.1_Missense_Mutation_p.V29L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	29					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATCCTTTACACTTAGCTGA	0.358000													22	36					1.22574e-08	1.48314e-08	0.014323	1	0
TBC1D2	55357	broad.mit.edu	37	9	100963875	100963875	+	Missense_Mutation	SNP	G	G	T	rs148540803	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:100963875G>T	ENST00000375066.5	-	11	2434	c.2343C>A	c.(2341-2343)caC>caA	p.H781Q	TBC1D2_ENST00000342112.5_Missense_Mutation_p.H563Q|TBC1D2_ENST00000375064.1_Missense_Mutation_p.H781Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.H321Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	781	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATCCACGTGGTGCTGCCCCA	0.607000													19	54					1.96292e-10	2.46128e-10	0.010504	1	0
FAM155A	728215	broad.mit.edu	37	13	107822853	107822853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:107822853C>A	ENST00000375915.2	-	3	1507	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	457						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGTTACTCCTCATTGGTTGAG	0.522000													31	19					2.61193e-14	3.63269e-14	0.009535	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342257	60342257	+	RNA	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:60342257G>T	ENST00000581291.1	-	0	1896																				breast(2)|kidney(1)|lung(2)	5						TGTCTCTCGAGCTGCACTCTT	0.488000													27	59					7.92952e-12	1.0429e-11	0.003954	1	0
ARID2	196528	broad.mit.edu	37	12	46215209	46215209	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:46215209G>T	ENST00000334344.6	+	6	816	c.644G>T	c.(643-645)gGa>gTa	p.G215V	ARID2_ENST00000422737.1_Missense_Mutation_p.G66V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	215					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTAGCTTTAGGATCCTTTTCC	0.254000			"""N, S, F"""		hepatocellular carcinoma								13	56					9.05144e-12	1.18403e-11	0.016723	1	0
OR56A1	120796	broad.mit.edu	37	11	6048915	6048915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:6048915G>T	ENST00000316650.5	-	1	56	c.20C>A	c.(19-21)tCa>tAa	p.S7*		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCTGGGTGACGCCATAGG	0.488000													38	101					1.47197e-15	2.09539e-15	0.007835	1	0
SFTPA2	729238	broad.mit.edu	37	10	81319105	81319105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:81319105G>T	ENST00000372325.2	-	3	219	c.135C>A	c.(133-135)gaC>gaA	p.D45E	SFTPA2_ENST00000372327.5_Missense_Mutation_p.D45E	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	45	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	p.D45D(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CATCTCTCCCGTCCCTGCCTG	0.622000									Pulmonary Fibrosis, Idiopathic				28	142					2.68265e-12	3.56704e-12	0.013726	1	0
COL11A1	1301	broad.mit.edu	37	1	103354187	103354187	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103354187C>A	ENST00000358392.2	-	62	4908		c.e62-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCGGGTCCCTGTTAGAAAG	0.423000													14	41					1.3612e-06	1.54653e-06	0.003163	1	0
KCNT2	343450	broad.mit.edu	37	1	196295982	196295982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:196295982T>C	ENST00000367433.5	-	19	2242	c.2141A>G	c.(2140-2142)tAt>tGt	p.Y714C	KCNT2_ENST00000294725.8_Missense_Mutation_p.Y714C|KCNT2_ENST00000451324.2_Missense_Mutation_p.Y325C|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y664C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	714						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGAATCCATAGGCTTTTGC	0.318000													22	55					0	0	0.018920	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135099030	135099030	+	Missense_Mutation	SNP	C	C	T	rs142228780	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:135099030C>T	ENST00000368563.2	-	12	2181	c.1825G>A	c.(1825-1827)Gcg>Acg	p.A609T	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A479T|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A202T|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A637T|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.A609T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	609					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCGCTCAGCGCCAGCTCCGTG	0.642000													20	19					0	0	0.008871	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671407	112671407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671407C>A	ENST00000441065.2	+	3	809	c.497C>A	c.(496-498)cCg>cAg	p.P166Q		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	166	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGCAAGGAGCCGGCTGACAGA	0.547000													30	67					7.01153e-11	8.97773e-11	0.007291	1	0
LRP1	4035	broad.mit.edu	37	12	57550688	57550688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57550688G>A	ENST00000243077.3	+	10	2012	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAGTGACGGGAAGTCATG	0.657000													3	10					0	0	0.009096	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729276	18729276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:18729276G>C	ENST00000600490.1	+	8	1059	c.874G>C	c.(874-876)Gcg>Ccg	p.A292P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A292P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	292						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTGGTGACCGCGCCTGGCCA	0.667000													3	14					0	0	0.009096	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72175990	72175990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:72175990G>A	ENST00000555818.1	+	15	4228	c.3880G>A	c.(3880-3882)Gcg>Acg	p.A1294T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A748T|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1294	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAGCAATGCGTCAAGTGC	0.483000													17	56					0	0	0.008871	0	0
MARCH2	51257	broad.mit.edu	37	19	8486776	8486776	+	Missense_Mutation	SNP	G	G	A	rs141281179		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:8486776G>A	ENST00000602117.1	+	2	507	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	MARCH2_ENST00000601283.1_Missense_Mutation_p.G18S|MARCH2_ENST00000215555.2_Missense_Mutation_p.G18S|MARCH2_ENST00000393944.1_Missense_Mutation_p.G18S|MARCH2_ENST00000381035.4_Missense_Mutation_p.G18S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	18					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGACTGCTCCGGCAGCCCTGC	0.677000													22	67					0	0	0.014323	0	0
NCAM2	4685	broad.mit.edu	37	21	22696776	22696776	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:22696776C>T	ENST00000400546.1	+	6	942	c.693C>T	c.(691-693)tcC>tcT	p.S231S	NCAM2_ENST00000284894.7_Silent_p.S89S|NCAM2_ENST00000535285.1_Silent_p.S256S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	231	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGACATTTTCCTGCAGGGCCT	0.493000													17	56					0	0	0.006122	0	0
CNTN3	5067	broad.mit.edu	37	3	74350820	74350820	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:74350820C>A	ENST00000263665.6	-	14	1950	c.1923G>T	c.(1921-1923)gtG>gtT	p.V641V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGCCAACCCACGGAGAAAG	0.448000													25	19					4.26978e-12	5.64637e-12	0.018920	1	0
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:64172320C>G	ENST00000262150.2	-	12	2340	c.2048G>C	c.(2047-2049)aGg>aCg	p.R683T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483000													47	56					0	0	0.014410	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020772	33020772	+	RNA	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:33020772A>C	ENST00000565407.2	+	0	180				RP11-19N8.2_ENST00000567619.1_RNA																							GCCAGGCTCCAGGGAAGGGAC	0.562000													110	310					0	0	0.014410	0	0
FGF5	2250	broad.mit.edu	37	4	81188293	81188293	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:81188293G>T	ENST00000456523.3	+	1	501	c.315G>T	c.(313-315)ccG>ccT	p.P105P	FGF5_ENST00000312465.7_Silent_p.P105P	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	105					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGATCTACCCGGATGGCAAAG	0.582000													29	58					3.73988e-18	5.51861e-18	0.006320	1	0
ATP11C	286410	broad.mit.edu	37	X	138899028	138899028	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:138899028G>A	ENST00000370557.1	-	4	1339	c.312C>T	c.(310-312)atC>atT	p.I104I	ATP11C_ENST00000370543.1_Silent_p.I107I|ATP11C_ENST00000359686.2_Silent_p.I107I|ATP11C_ENST00000361648.2_Silent_p.I107I|ATP11C_ENST00000327569.3_Silent_p.I107I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	107					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGCTTGATGGCTGTAA	0.368000													17	21					0	0	0.006122	0	0
BRWD3	254065	broad.mit.edu	37	X	79999656	79999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:79999656C>A	ENST00000373275.4	-	8	904	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	230										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATAGTTAACAGCCATGTCA	0.448000													23	17					6.36457e-07	7.29965e-07	0.003954	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499694	104499694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:104499694C>T	ENST00000361820.3	-	1	1168	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	190					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACCCCTTGCACCACCACGGTA	0.587000													17	45					0	0	0.004007	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329127	144329127	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:144329127C>T	ENST00000370493.3	+	1	780	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	7										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCAAGCATCAATGGGG	0.448000													46	41					0	0	0.014410	0	0
CABIN1	23523	broad.mit.edu	37	22	24515613	24515613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:24515613A>G	ENST00000398319.2	+	28	4965	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1527C|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1448C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1527					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCAGCACTATAAGAGTCTC	0.647000													80	141					0	0	0.014410	0	0
PEX6	5190	broad.mit.edu	37	6	42936617	42936617	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:42936617G>A	ENST00000304611.8	-	6	1543	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	PEX6_ENST00000244546.4_Silent_p.L492L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	492					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCAGTAAGTGGAGC	0.587000													29	15					0	0	0.007291	0	0
FCN2	2220	broad.mit.edu	37	9	137772670	137772670	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:137772670G>T	ENST00000350339.2	+	1	17	c.3G>T	c.(1-3)atG>atT	p.M1I	FCN2_ENST00000291744.6_Start_Codon_SNP_p.M1I	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	1					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGAAGAGATGGAGCTGGACA	0.592000													14	29					6.31663e-08	7.49325e-08	0.003163	1	0
G6PC2	57818	broad.mit.edu	37	2	169764237	169764237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:169764237C>A	ENST00000375363.3	+	5	808	c.716C>A	c.(715-717)gCc>gAc	p.A239D	G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	239					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGCCCATAGCCAAAAAGTGG	0.512000													30	59					8.16721e-17	1.19064e-16	0.010818	1	0
ZNF385B	151126	broad.mit.edu	37	2	180409678	180409678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:180409678G>A	ENST00000410066.1	-	4	875	c.272C>T	c.(271-273)aCt>aTt	p.T91I	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.T15I|ZNF385B_ENST00000336917.5_5'UTR|ZNF385B_ENST00000409692.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	91						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGGAAGGGTAGTAGTGTGGCA	0.448000													37	88					0	0	0.017118	0	0
C1orf64	149563	broad.mit.edu	37	1	16332707	16332707	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:16332707C>T	ENST00000329454.2	+	2	444	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	126										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGTCAGCCCGCTCTGCCC	0.647000													20	35					0	0	0.008871	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907312	9907312	+	RNA	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:9907312G>A	ENST00000416067.1	-	0	1480					NR_037872.1|NR_038327.1																						CACTTCTGGCGGTCGATGAAG	0.582000													4	28					0	0	0.014758	0	0
LARGE	9215	broad.mit.edu	37	22	33733754	33733754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:33733754C>A	ENST00000354992.2	-	11	1736	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	LARGE_ENST00000452586.2_Missense_Mutation_p.V188L|LARGE_ENST00000437602.2_Missense_Mutation_p.V389L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Missense_Mutation_p.V389L|LARGE_ENST00000402320.1_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	389					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGTTCTTCACCCGGAGCTTC	0.557000													11	27					0.000151284	0.000162715	0.016723	1	0
ZW10	9183	broad.mit.edu	37	11	113639651	113639651	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113639651T>A	ENST00000200135.3	-	2	288	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	48	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGGCAGGAATTCACTGTACT	0.403000													62	66					0	0	0.014410	0	0
RBM19	9904	broad.mit.edu	37	12	114261056	114261056	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:114261056G>A	ENST00000545145.2	-	24	2934	c.2856C>T	c.(2854-2856)gaC>gaT	p.D952D	RBM19_ENST00000392561.3_Silent_p.D952D|RBM19_ENST00000261741.5_Silent_p.D952D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	952					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCTCGCTGTCGCTGTCAC	0.637000													16	32					0	0	0.006122	0	0
DYRK4	8798	broad.mit.edu	37	12	4721873	4721873	+	Missense_Mutation	SNP	C	C	G	rs141423818	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:4721873C>G	ENST00000540757.2	+	12	1470	c.1310C>G	c.(1309-1311)tCg>tGg	p.S437W	DYRK4_ENST00000545342.1_Missense_Mutation_p.S74W|DYRK4_ENST00000010132.5_Missense_Mutation_p.S437W|DYRK4_ENST00000543431.1_Missense_Mutation_p.S437W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	437						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468000													42	49					0	0	0.009718	0	0
TGFB2	7042	broad.mit.edu	37	1	218614596	218614596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:218614596C>A	ENST00000366929.4	+	8	1688	c.1221C>A	c.(1219-1221)tgC>tgA	p.C407*	TGFB2_ENST00000366930.4_Nonsense_Mutation_p.C379*|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTCTCCTTGCTGCGTGTCCC	0.403000													28	59					4.87955e-14	6.70939e-14	0.005443	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	9					0	0	0.004672	0	0
CEP164	22897	broad.mit.edu	37	11	117282544	117282544	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:117282544G>A	ENST00000278935.3	+	32	4344	c.4197G>A	c.(4195-4197)tcG>tcA	p.S1399S	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1399					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCCCATTCGCAAGTCCCTG	0.582000													5	120					0	0	0.001168	0	0
RNASEH1	246243	broad.mit.edu	37	2	3598055	3598055	+	Silent	SNP	G	G	A	rs139176330		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:3598055G>A	ENST00000315212.3	-	4	772	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	139	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AGACGACGACGAAGTCTCCTG	0.493000													4	123					0	0	0.009096	0	0
PDE1C	5137	broad.mit.edu	37	7	32209516	32209516	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:32209516C>A	ENST00000396193.1	-	3	782	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCTTGACATTCCCTGTGAGCC	0.517000													25	105					3.6726e-16	5.2903e-16	0.003954	1	0
NTM	50863	broad.mit.edu	37	11	132016264	132016264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:132016264C>T	ENST00000374786.1	+	2	735	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_ENST00000539799.1_Missense_Mutation_p.P86S|NTM_ENST00000374791.3_Missense_Mutation_p.P86S|NTM_ENST00000427481.2_Missense_Mutation_p.P77S|NTM_ENST00000374784.1_Missense_Mutation_p.P86S|NTM_ENST00000425719.2_Missense_Mutation_p.P86S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	86	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572000													21	71					0	0	0.012319	0	0
EPHA8	2046	broad.mit.edu	37	1	22927549	22927549	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:22927549T>C	ENST00000166244.3	+	15	2769	c.2697T>C	c.(2695-2697)ccT>ccC	p.P899P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	899						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCAGCCCTGAGAGTCTCA	0.647000													3	87					0	0	0.009096	0	0
SYDE2	84144	broad.mit.edu	37	1	85647842	85647842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:85647842C>T	ENST00000341460.5	-	3	2532	c.2483G>A	c.(2482-2484)gGa>gAa	p.G828E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	828	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCATCAGTCCTATATTTTC	0.348000													3	16					0	0	0.009096	0	0
IL1A	3552	broad.mit.edu	37	2	113535595	113535595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:113535595G>A	ENST00000263339.3	-	6	739	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	195					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TTCATCTTGGGCAGTCACATA	0.388000													14	58					0	0	0.003163	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43691705	43691705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:43691705A>T	ENST00000395809.1	-	13	3939	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.L478Q|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.L486Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	478					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCTGTTCAGAAGGGTGGT	0.597000													27	66					0	0	0.005443	0	0
TPI1	7167	broad.mit.edu	37	12	6976735	6976735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6976735C>T	ENST00000229270.4	+	1	453	c.116C>T	c.(115-117)gCg>gTg	p.A39V	TPI1_ENST00000396705.5_Missense_Mutation_p.A2V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	2					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGCGCCATGGCGCCCTCCAGG	0.642000													8	18					0	0	0.004482	0	0
RARS	5917	broad.mit.edu	37	5	167921571	167921571	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:167921571C>T	ENST00000231572.3	+	5	549	c.495C>T	c.(493-495)caC>caT	p.H165H	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	165					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTAATGTCCACTTAAGAAAGG	0.358000													8	28					0	0	0.004482	0	0
HSPA14	51182	broad.mit.edu	37	10	14894529	14894529	+	Splice_Site	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:14894529A>T	ENST00000378372.3	+	8	972	c.734_splice	c.e8+1	p.R245_splice		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	245					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGAGTTCCAAAGGTGAGTGTT	0.358000													30	61					0	0	0.012213	0	0
APBA2	321	broad.mit.edu	37	15	29346999	29346999	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:29346999C>T	ENST00000558402.1	+	5	1511	c.912C>T	c.(910-912)acC>acT	p.T304T	APBA2_ENST00000558330.1_Silent_p.T304T|APBA2_ENST00000411764.1_Silent_p.T304T|APBA2_ENST00000558259.1_Silent_p.T304T|APBA2_ENST00000561069.1_Silent_p.T304T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	304					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCCCAAGACCAGGACCCCAG	0.677000													5	24					0	0	0.014758	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74015431	74015431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:74015431C>G	ENST00000476977.1	+	26	4381	c.2690C>G	c.(2689-2691)tCc>tGc	p.S897C	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.S912C|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S929C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S897C			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	912						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATTCCGTctcctcttcctcc	0.542000													23	27					0	0	0.012319	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671295	112671295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671295G>T	ENST00000441065.2	+	3	697	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	129	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTGACAAAAGATCCCAGGCT	0.557000													22	38					3.5997e-14	4.97787e-14	0.014323	1	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907278	9907278	+	RNA	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:9907278G>T	ENST00000416067.1	-	0	1514					NR_037872.1|NR_038327.1																						CAGAATGGTGGGGTAGCAAGT	0.562000													4	21					1.23904e-05	1.36917e-05	0.014758	1	0
NCDN	23154	broad.mit.edu	37	1	36028893	36028893	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:36028893G>C	ENST00000373243.2	+	5	1859	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	NCDN_ENST00000356090.4_Missense_Mutation_p.K492N|NCDN_ENST00000373253.3_Missense_Mutation_p.K475N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	492					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTGTGCAAGTATTTCCTGC	0.622000													31	81					0	0	0.008361	0	0
GPER1	2852	broad.mit.edu	37	7	1131629	1131629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:1131629G>A	ENST00000397092.1	+	3	1149	c.265G>A	c.(265-267)Gag>Aag	p.E89K	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.E89K|GPER_ENST00000297469.3_Missense_Mutation_p.E89K|GPER_ENST00000397088.3_Missense_Mutation_p.E89K	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		89						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CAGCTTCCGCGAGAAGATGAC	0.582000													15	51					0	0	0.002450	0	0
FTCD	10841	broad.mit.edu	37	21	47570433	47570433	+	Missense_Mutation	SNP	G	G	C	rs149667449	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:47570433G>C	ENST00000397748.1	-	6	686	c.643C>G	c.(643-645)Cgt>Ggt	p.R215G	FTCD_ENST00000359679.2_Missense_Mutation_p.R215G|FTCD_ENST00000355384.2_Missense_Mutation_p.R215G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.R215G|FTCD_ENST00000291670.5_Missense_Mutation_p.R215G|FTCD_ENST00000397743.1_Missense_Mutation_p.R215G			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	215	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.R215C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCTTCAGACGTCCTGGCTGC	0.577000													16	46					0	0	0.004007	0	0
GPR139	124274	broad.mit.edu	37	16	20043388	20043388	+	Missense_Mutation	SNP	C	C	G	rs140063049	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20043388C>G	ENST00000570682.1	-	2	1031	c.731G>C	c.(730-732)cGc>cCc	p.R244P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCA	0.542000													27	59					0	0	0.003954	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922823	43922823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:43922823A>T	ENST00000329196.5	+	1	568	c.551A>T	c.(550-552)gAc>gTc	p.D184V	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	184						integral to membrane	aspartic-type endopeptidase activity										CCCATCATCGACTACAACATG	0.637000													37	86					0	0	0.004878	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451842	43451842	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:43451842C>A	ENST00000282388.3	-	2	1394	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	367					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGAGCTCCGGACCGAAGG	0.726000													9	16					0.00621372	0.00639881	0.006214	1	0
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:95795123C>A	ENST00000375482.3	+	16	2249	c.1753C>A	c.(1753-1755)Ctg>Atg	p.L585M	FGD3_ENST00000337352.6_Missense_Mutation_p.L585M|FGD3_ENST00000538555.1_Missense_Mutation_p.L188M|FGD3_ENST00000416701.2_Missense_Mutation_p.L585M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637000													42	112					2.45108e-15	3.44861e-15	0.008740	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68184172	68184172	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:68184172C>A	ENST00000262215.3	-	10	1727		c.e10-1			NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATGAGACCTAAAATGTAA	0.318000													12	13					6.40141e-05	6.94682e-05	0.010729	1	0
UBBP4	23666	broad.mit.edu	37	17	21730864	21730864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:21730864C>A	ENST00000584755.1	+	2	563	c.166C>A	c.(166-168)Ctt>Att	p.L56I	UBBP4_ENST00000578713.1_Missense_Mutation_p.L56I|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGGCCGCAGTCTTTCTGACTA	0.512000													26	41					3.6726e-16	5.2903e-16	0.003954	1	0
CCDC39	339829	broad.mit.edu	37	3	180349272	180349272	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:180349272G>T	ENST00000273654.4	-	20	2854	c.2235C>A	c.(2233-2235)gcC>gcA	p.A745A	CCDC39_ENST00000442201.2_Silent_p.A661A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTACATAATAGGCCTGTGTTT	0.328000													11	40					1.58986e-06	1.78952e-06	0.008291	1	0
RIMS2	9699	broad.mit.edu	37	8	105026790	105026790	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:105026790G>T	ENST00000507740.1	+	17	2959	c.2723G>T	c.(2722-2724)gGa>gTa	p.G908V	RIMS2_ENST00000262231.10_Missense_Mutation_p.G933V|RIMS2_ENST00000436393.2_Missense_Mutation_p.G834V|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1094V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1156	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCGCAGGACGAAGGGGC	0.438000										HNSCC(12;0.0054)			21	26					4.63292e-17	6.79495e-17	0.008871	1	0
APLP1	333	broad.mit.edu	37	19	36362583	36362583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:36362583C>T	ENST00000221891.4	+	5	799	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	APLP1_ENST00000537454.2_Missense_Mutation_p.R164C|APLP1_ENST00000586861.1_Missense_Mutation_p.R197C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	203					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R203C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATCGGTTCCGTGGTGTGGA	0.637000													23	26					0	0	0.012319	0	0
FKTN	2218	broad.mit.edu	37	9	108366711	108366711	+	Silent	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:108366711T>A	ENST00000223528.2	+	5	709	c.585T>A	c.(583-585)atT>atA	p.I195I	FKTN_ENST00000357998.5_Silent_p.I195I|FKTN_ENST00000602661.1_Silent_p.I195I|FKTN_ENST00000448551.2_Silent_p.I195I|FKTN_ENST00000540160.1_Silent_p.I195I	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	195					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAGAACACATTGACAGGAAAT	0.443000													16	34					0	0	0.003163	0	0
N4BP1	9683	broad.mit.edu	37	16	48595684	48595684	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:48595684A>G	ENST00000262384.3	-	2	1106	c.870T>C	c.(868-870)tcT>tcC	p.S290S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	290					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCCTTTCTTCAGAATCAGAAA	0.408000													19	46					0	0	0.008871	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779616	76779616	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:76779616C>A	ENST00000328299.3	+	2	293	c.145C>A	c.(145-147)Cca>Aca	p.P49T	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	49					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGTGGATACCATTCTCCTA	0.453000													32	62					2.08457e-15	2.95009e-15	0.010818	1	0
SLC12A4	6560	broad.mit.edu	37	16	67984561	67984561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:67984561C>T	ENST00000422611.2	-	10	1495	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	SLC12A4_ENST00000576616.1_Missense_Mutation_p.D484N|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D453N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D478N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D436N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	484					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTCACTTGTCCCGGAGAACC	0.632000													3	15					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100685833	100685833	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:100685833C>T	ENST00000306151.4	+	3	11200	c.11136C>T	c.(11134-11136)agC>agT	p.S3712S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3712	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAGGGTAGCACCCTTTCAA	0.507000													441	189					0	0	0.014410	0	0
NPVF	64111	broad.mit.edu	37	7	25266438	25266438	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:25266438T>C	ENST00000222674.2	-	2	392	c.346A>G	c.(346-348)Atg>Gtg	p.M116V		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	116					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCACCTCCATATTTCTTCCA	0.493000													48	119					0	0	0.014410	0	0
MYO15A	51168	broad.mit.edu	37	17	18067125	18067125	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:18067125T>A	ENST00000205890.5	+	60	10098	c.9760T>A	c.(9760-9762)Tat>Aat	p.Y3254N	MYO15A_ENST00000451725.2_Missense_Mutation_p.Y146N|MYO15A_ENST00000418233.3_Missense_Mutation_p.Y518N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3254	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCAATGAATATGTTATCTT	0.597000													7	17					0	0	0.003080	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602128	13602128	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:13602128G>T	ENST00000040738.5	-	10	6531	c.6396C>A	c.(6394-6396)gcC>gcA	p.A2132A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2132							DNA binding										CACTTCTGCTGGCAGTGAGTT	0.473000													14	35					1.5842e-08	1.90735e-08	0.016723	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253791	32253791	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:32253791C>A	ENST00000332378.4	-	1	83	c.53G>T	c.(52-54)cGc>cTc	p.R18L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AACAATGCAGCGTCCTCCAAT	0.547000													34	59					2.48696e-23	3.80914e-23	0.015359	1	0
PTCHD2	57540	broad.mit.edu	37	1	11562935	11562935	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L650L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATGCTGGCCAAGCA	0.522000													3	54					0	0	0.004672	0	0
IGFBP1	3484	broad.mit.edu	37	7	45928583	45928583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:45928583C>A	ENST00000275525.3	+	1	628	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	IGFBP1_ENST00000457280.1_Missense_Mutation_p.S111Y|IGFBP1_ENST00000468955.1_Missense_Mutation_p.S111Y	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	111						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCTGACGCCTCCGCTCCCCAT	0.741000													4	4					0.00909568	0.00932693	0.009096	1	0
RNF123	63891	broad.mit.edu	37	3	49738099	49738099	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:49738099C>T	ENST00000327697.6	+	15	1378	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	RNF123_ENST00000432042.1_Silent_p.L266L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	412						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TATCGCCATCCTGAGGCATGA	0.607000													25	38					0	0	0.003954	0	0
OR6V1	346517	broad.mit.edu	37	7	142750110	142750110	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:142750110C>A	ENST00000418316.1	+	1	694	c.673C>A	c.(673-675)Cgg>Agg	p.R225R		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CACTGTGCTGCGGATCCCCTC	0.532000													55	63					2.12129e-23	3.26975e-23	0.014410	1	0
COL11A1	1301	broad.mit.edu	37	1	103471395	103471395	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103471395C>A	ENST00000358392.2	-	18	2197	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Splice_Site_p.R499_splice|COL11A1_ENST00000353414.4_Splice_Site_p.R576_splice|COL11A1_ENST00000370096.3_Splice_Site_p.R615_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	615	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343000													26	64					2.12542e-12	2.84172e-12	0.006320	1	0
LRP2	4036	broad.mit.edu	37	2	170129512	170129512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:170129512C>A	ENST00000263816.3	-	15	2326	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	LRP2_ENST00000443831.1_Missense_Mutation_p.D612Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	681	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCATTATCTGTTCTGTGG	0.463000													48	116					8.00217e-19	1.18805e-18	0.014410	1	0
TECPR1	25851	broad.mit.edu	37	7	97872809	97872809	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:97872809C>A	ENST00000447648.2	-	6	926	c.627G>T	c.(625-627)ctG>ctT	p.L209L	TECPR1_ENST00000379795.3_Silent_p.L209L|TECPR1_ENST00000542604.1_Silent_p.L130L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	209						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACACTGACAGGCGGCCCA	0.647000													84	47					1.51188e-25	2.36048e-25	0.014410	1	0
SVEP1	79987	broad.mit.edu	37	9	113169643	113169643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:113169643C>A	ENST00000401783.2	-	38	8573	c.8237G>T	c.(8236-8238)gGa>gTa	p.G2746V	SVEP1_ENST00000297826.5_Missense_Mutation_p.G672V|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2723V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2746	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGAATGTGTCCAGGTTTACA	0.443000													28	65					1.26454e-06	1.44349e-06	0.005443	1	0
ARMC2	84071	broad.mit.edu	37	6	109215694	109215694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:109215694G>T	ENST00000392644.4	+	6	864	c.696G>T	c.(694-696)agG>agT	p.R232S	ARMC2_ENST00000368972.3_Missense_Mutation_p.R67S	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	232							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GACATGCGAGGGCCTCATCAT	0.488000													22	56					7.41877e-09	9.02182e-09	0.012319	1	0
LAMB1	3912	broad.mit.edu	37	7	107580499	107580499	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:107580499G>C	ENST00000393561.1	-	23	3952	c.3768C>G	c.(3766-3768)gaC>gaG	p.D1256E	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1232E			P07942	LAMB1_HUMAN	laminin, beta 1	1232	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCCAGGATGTCTTTTATCT	0.498000													36	37					0	0	0.013726	0	0
HIF1A	3091	broad.mit.edu	37	14	62204929	62204929	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:62204929G>A	ENST00000394997.1	+	10	1642	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	HIF1A_ENST00000557538.1_Silent_p.T399T|HIF1A_ENST00000323441.6_Silent_p.T458T|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000337138.4_Silent_p.T458T|HIF1A_ENST00000539097.1_Silent_p.T482T|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	458	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CCGCTGAAACGCCAAAGCCAC	0.403000													49	81					0	0	0.014410	0	0
SPERT	220082	broad.mit.edu	37	13	46288501	46288501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:46288501G>T	ENST00000378966.3	+	2	1649	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	SPERT_ENST00000310521.1_Missense_Mutation_p.R447S			Q8NA61	SPERT_HUMAN	spermatid associated	447						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCTAGCAGGGTCTGAGGCC	0.622000													6	7					3.59834e-05	3.94026e-05	0.001168	1	0
NSD1	64324	broad.mit.edu	37	5	176687055	176687055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:176687055G>T	ENST00000439151.2	+	14	5077	c.5032G>T	c.(5032-5034)Ggg>Tgg	p.G1678W	NSD1_ENST00000354179.4_Missense_Mutation_p.G1409W|NSD1_ENST00000347982.4_Missense_Mutation_p.G1409W|NSD1_ENST00000361032.4_Missense_Mutation_p.G1575W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1678					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGCTGCTGGGTCAAAGAT	0.488000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	30					1.49906e-05	1.64897e-05	0.002450	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342256	60342256	+	RNA	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:60342256A>T	ENST00000581291.1	-	0	1897																				breast(2)|kidney(1)|lung(2)	5						ATGTCTCTCGAGCTGCACTCT	0.488000													27	59					0	0	0.003954	0	0
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:5758676C>T	ENST00000317121.3	+	1	996	c.930C>T	c.(928-930)gcC>gcT	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418000													44	107					0	0	0.007835	0	0
RGL3	57139	broad.mit.edu	37	19	11510580	11510580	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:11510580G>T	ENST00000380456.3	-	16	1760	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	RGL3_ENST00000393423.3_Missense_Mutation_p.P572H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	566	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACTGCCAGCAGGAGCATCTCT	0.667000													22	37					7.41877e-09	9.02182e-09	0.012319	1	0
FAT4	79633	broad.mit.edu	37	4	126408505	126408505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:126408505G>T	ENST00000394329.3	+	16	12835	c.12822G>T	c.(12820-12822)aaG>aaT	p.K4274N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2515N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4274	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACAGATTAAGAATGGCAAAG	0.318000													7	17					0.00198382	0.00206933	0.001984	1	0
PNPLA7	375775	broad.mit.edu	37	9	140438232	140438232	+	Silent	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:140438232A>C	ENST00000406427.1	-	5	645	c.309T>G	c.(307-309)acT>acG	p.T103T	PNPLA7_ENST00000277531.4_Silent_p.T78T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	78					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGGCAGGGCAGTGTTCTCCA	0.622000													21	64					0	0	0.012319	0	0
C8A	731	broad.mit.edu	37	1	57341807	57341807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:57341807G>A	ENST00000361249.3	+	4	485	c.389G>A	c.(388-390)tGt>tAt	p.C130Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	130	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGACGACTGTGAAGATGTC	0.542000													16	38					0	0	0.003163	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679898	3679898	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3679898G>C	ENST00000344754.4	-	7	1736	c.1737C>G	c.(1735-1737)gaC>gaG	p.D579E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D579E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	579	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACTGTGGCCGTCCCGGGCCC	0.692000													7	15					0	0	0.001984	0	0
MBD5	55777	broad.mit.edu	37	2	149247953	149247953	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:149247953C>A	ENST00000407073.1	+	12	5050	c.4053C>A	c.(4051-4053)agC>agA	p.S1351R	MBD5_ENST00000404807.1_Missense_Mutation_p.S1584R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1351						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGTGCCTAGCCCTTCAGATG	0.408000													21	47					1.01871e-10	1.29752e-10	0.008871	1	0
GPC5	2262	broad.mit.edu	37	13	92345880	92345880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:92345880G>C	ENST00000377067.3	+	3	1137	c.765G>C	c.(763-765)atG>atC	p.M255I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	255						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCTGAAGATGCAATACTGCC	0.552000													30	25					0	0	0.009535	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410744	119410744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:119410744T>C	ENST00000371369.4	-	7	897	c.671A>G	c.(670-672)gAc>gGc	p.D224G	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D84G|TMEM255A_ENST00000309720.5_Missense_Mutation_p.D248G	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CCTTACCATGTCCTTAAAGCC	0.507000													26	10					0	0	0.004656	0	0
PROSER2	254427	broad.mit.edu	37	10	11911812	11911812	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:11911812G>T	ENST00000277570.5	+	4	869	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	PROSER2_ENST00000379200.1_Missense_Mutation_p.G43C|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		TGGAGACCCTGGCCCGGGGCC	0.766000													9	14					3.09899e-07	3.5883e-07	0.004482	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8215500	8215500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:8215500G>A	ENST00000361926.3	+	2	253	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R48Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	48	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R48Q(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAACTACCCCGAAACTCCAAT	0.632000													50	97					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153056596	153056596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056596G>T	ENST00000285900.5	+	7	1247	c.904G>T	c.(904-906)Gag>Tag	p.E302*	GRIA1_ENST00000448073.4_Nonsense_Mutation_p.E312*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.E302*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.E312*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.E222*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.E233*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	302					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGATGGCTGAGGCTTTCCA	0.552000													17	23					1.67942e-08	2.01197e-08	0.006122	1	0
SNORD114-27	767608	broad.mit.edu	37	14	101454501	101454501	+	RNA	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:101454501T>A	ENST00000363766.1	+	0	4					NR_003220.1																						AGAATCCTGGTTCAGTGTTGA	0.333000													16	30					0	0	0.003163	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862797	10862797	+	RNA	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:10862797G>T	ENST00000559480.1	+	0	93																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGAGGTGAAGAAGCCTGGGG	0.572000													55	146					1.17673e-23	1.82544e-23	0.014410	1	0
PON1	5444	broad.mit.edu	37	7	94946068	94946068	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:94946068T>G	ENST00000222381.3	-	3	410	c.179A>C	c.(178-180)aAt>aCt	p.N60T	PON1_ENST00000542556.1_Missense_Mutation_p.N60T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	60					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGCCAGTCCATTAGGCAGTAT	0.398000													46	323					0	0	0.014410	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378576	130378576	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:130378576G>T	ENST00000529410.1	+	11	1172	c.693G>T	c.(691-693)gcG>gcT	p.A231A	L3MBTL3_ENST00000526019.1_Silent_p.A206A|L3MBTL3_ENST00000361794.2_Silent_p.A231A|L3MBTL3_ENST00000368136.2_Silent_p.A231A|L3MBTL3_ENST00000533560.1_Silent_p.A206A|L3MBTL3_ENST00000368139.2_Silent_p.A206A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	231					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAAGAAAGCGTGGTGCTGGG	0.522000													7	17					1.26484e-09	1.5617e-09	0.003080	1	0
RIN3	79890	broad.mit.edu	37	14	93151468	93151468	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:93151468G>A	ENST00000216487.7	+	9	2763	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	868					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCTCAACAAGGCCCGGGCCT	0.662000													10	33					0	0	0.006214	0	0
COL22A1	169044	broad.mit.edu	37	8	139890335	139890335	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:139890335G>A	ENST00000303045.6	-	3	762	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R106W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	106	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCGAGACGCCGGGCAGCCGCC	0.716000										HNSCC(7;0.00092)			16	4					0	0	0.004007	0	0
DNAJB14	79982	broad.mit.edu	37	4	100830007	100830007	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:100830007T>C	ENST00000442697.2	-	4	652	c.498A>G	c.(496-498)aaA>aaG	p.K166K		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	166	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGTCATACTGTTTTCGCTTTT	0.348000													21	40					0	0	0.018920	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175117	73175117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:73175117G>A	ENST00000286657.4	-	15	2212	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	726	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTTACCAAGCTTCCTGGGA	0.408000													18	38					0	0	0.010504	0	0
GCNT2	2651	broad.mit.edu	37	6	10529410	10529410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:10529410C>T	ENST00000379597.3	+	1	822	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428000													31	43					0	0	0.008361	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328994	88328994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:88328994C>A	ENST00000325089.6	+	2	1570	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R210S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	451						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GATCCAGGACCGCGCTTTCGG	0.597000													35	21					9.65963e-10	1.19879e-09	0.015359	1	0
NPAS3	64067	broad.mit.edu	37	14	34243588	34243588	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:34243588C>A	ENST00000346562.2	+	7	876	c.802C>A	c.(802-804)Cac>Aac	p.H268N	NPAS3_ENST00000551492.1_Missense_Mutation_p.H305N|NPAS3_ENST00000548645.1_Missense_Mutation_p.H270N|NPAS3_ENST00000357798.5_Missense_Mutation_p.H287N|NPAS3_ENST00000356141.4_Missense_Mutation_p.H300N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTCGCTGTCCCACGGGAGGAC	0.498000													22	73					1.50039e-11	1.95212e-11	0.012319	1	0
DOCK10	55619	broad.mit.edu	37	2	225717743	225717743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225717743G>T	ENST00000409592.3	-	17	2080	c.1967C>A	c.(1966-1968)aCa>aAa	p.T656K	DOCK10_ENST00000258390.7_Missense_Mutation_p.T662K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	662							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACAATACTTTGTTGAATCGTA	0.368000													22	38					1.28384e-07	1.50091e-07	0.012319	1	0
DCLK1	9201	broad.mit.edu	37	13	36700222	36700222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:36700222G>A	ENST00000255448.4	-	2	264	c.53C>T	c.(52-54)gCg>gTg	p.A18V	DCLK1_ENST00000379892.4_Missense_Mutation_p.A18V|DCLK1_ENST00000360631.3_Missense_Mutation_p.A18V	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622000													25	41					0	0	0.007291	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331685	18331685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:18331685C>A	ENST00000377369.2	+	13	2272	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SLC39A12_ENST00000539911.1_Missense_Mutation_p.L533M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L666M|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L630M	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGTTTCTCCTGCAAAACTT	0.353000													16	61					6.94344e-10	8.66141e-10	0.006122	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	57					0	0	0.009096	0	0
MYH1	4619	broad.mit.edu	37	17	10402040	10402040	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:10402040G>T	ENST00000226207.5	-	30	4178	c.4084C>A	c.(4084-4086)Cag>Aag	p.Q1362K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1362						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTGCTCTCTGTAGCTCGGCC	0.592000													41	85					4.14481e-20	6.23008e-20	0.006230	1	0
GTF3C3	9330	broad.mit.edu	37	2	197640813	197640813	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:197640813C>G	ENST00000263956.3	-	12	1705	c.1616G>C	c.(1615-1617)cGt>cCt	p.R539P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	539						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGAGTAGAACGATGAAGCAA	0.323000													23	51					0	0	0.016522	0	0
MYH9	4627	broad.mit.edu	37	22	36689419	36689419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:36689419C>G	ENST00000216181.5	-	30	4281	c.4051G>C	c.(4051-4053)Gcc>Ccc	p.A1351P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1351					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCC	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	56					0	0	0.008361	0	0
VPS13C	54832	broad.mit.edu	37	15	62167104	62167104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:62167104C>A	ENST00000261517.5	-	77	10458	c.10385G>T	c.(10384-10386)gGa>gTa	p.G3462V	VPS13C_ENST00000395896.4_Missense_Mutation_p.G3462V|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3419V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3462					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCTCACTCCAATCACTAA	0.303000													13	18					1.96292e-10	2.46128e-10	0.010504	1	0
CYP2D7	1564	broad.mit.edu	37	22	42538867	42538867	+	RNA	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:42538867G>A	ENST00000433992.1	-	0	478				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						GGCCCATAGCGCGACAGGAAC	0.687000													10	19					0	0	0.016723	0	0
GADL1	339896	broad.mit.edu	37	3	30875411	30875411	+	Silent	SNP	G	G	T	rs139652704	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:30875411G>T	ENST00000454381.3	-	11	1030	c.984C>A	c.(982-984)gcC>gcA	p.A328A	GADL1_ENST00000282538.5_Silent_p.A328A			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	328					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTGGGTTCCAGGCCACAGAGT	0.448000													15	19					3.52763e-06	3.95225e-06	0.004990	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88874652	88874652	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:88874652G>A	ENST00000303236.3	-	13	2650	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	EIF2AK3_ENST00000419748.1_Silent_p.H632H|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	783	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTTCAAAGGAGTGCCCCTCAT	0.453000													109	204					0	0	0.014410	0	0
OR4A15	81328	broad.mit.edu	37	11	55136211	55136211	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:55136211C>A	ENST00000314706.3	+	1	852	c.852C>A	c.(850-852)ttC>ttA	p.F284L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408000													51	214					5.39261e-20	8.05563e-20	0.014410	1	0
TRIM9	114088	broad.mit.edu	37	14	51464789	51464789	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:51464789G>A	ENST00000298355.3	-	7	2703	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	TRIM9_ENST00000338969.5_Silent_p.L524L|TRIM9_ENST00000360392.4_Silent_p.L528L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	528	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGGAGGACCAGGGTCTTGCTG	0.552000													13	42					0	0	0.016723	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000164	52000164	+	Missense_Mutation	SNP	G	G	T	rs145034575		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:52000164G>T	ENST00000291707.3	-	7	1624	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.D405E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	523					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577000													27	34					3.65163e-15	5.10806e-15	0.006320	1	0
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512000													32	39					0	0	0.013726	0	0
ACOX2	8309	broad.mit.edu	37	3	58520802	58520802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:58520802C>T	ENST00000302819.5	-	2	323	c.32G>A	c.(31-33)gGg>gAg	p.G11E	ACOX2_ENST00000459701.2_Missense_Mutation_p.G11E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	11					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCAGGTATCCCCCAATGACAC	0.572000													61	106					0	0	0.014410	0	0
DCX	1641	broad.mit.edu	37	X	110653366	110653366	+	Silent	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:110653366C>G	ENST00000338081.3	-	2	675	c.504G>C	c.(502-504)ctG>ctC	p.L168L	DCX_ENST00000488120.1_Silent_p.L87L|DCX_ENST00000371993.2_Silent_p.L87L|DCX_ENST00000356915.2_Silent_p.L87L|DCX_ENST00000356220.3_Silent_p.L87L|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	168	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGATCGCGTCAGGTCAGCCA	0.527000													51	27					0	0	0.014410	0	0
PIK3CA	5290	broad.mit.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K.		G -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCTTGGCTCTGGAAT	0.378000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	43					0	0	0.007413	0	0
TAF4B	6875	broad.mit.edu	37	18	23873440	23873440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873440C>T	ENST00000269142.5	+	9	2775	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	593					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTCACTTCAAGCATCTCC	0.284000													10	14					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237838057	237838057	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:237838057C>A	ENST00000366574.2	+	60	9058	c.8741C>A	c.(8740-8742)aCg>aAg	p.T2914K	RYR2_ENST00000542537.1_Missense_Mutation_p.T2898K|RYR2_ENST00000360064.6_Missense_Mutation_p.T2912K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2914	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTGGACACGCCTTCTATT	0.408000													5	16					0.00116845	0.00122941	0.001168	1	0
ASPHD2	57168	broad.mit.edu	37	22	26838460	26838460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:26838460G>C	ENST00000215906.5	+	3	1360	c.922G>C	c.(922-924)Ggg>Cgg	p.G308R		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	308					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCTGGTGGTGGGGGGAGAGCC	0.552000													51	140					0	0	0.014410	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782348	22782348	+	RNA	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:22782348A>T	ENST00000390300.2	+	0	351																											CTATTACTGTATGATTTGGCC	0.453000													47	94					0	0	0.014410	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054055	95054055	+	Missense_Mutation	SNP	A	A	T	rs144727156	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:95054055A>T	ENST00000329597.7	+	3	566	c.356A>T	c.(355-357)aAc>aTc	p.N119I	SERPINA5_ENST00000553780.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000554276.1_Missense_Mutation_p.N119I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	119					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAGGAACTCAACCAGCCCAGA	0.567000													11	22					0	0	0.010729	0	0
GPC5	2262	broad.mit.edu	37	13	93518663	93518663	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:93518663G>C	ENST00000377067.3	+	8	2062	c.1690G>C	c.(1690-1692)Gtg>Ctg	p.V564L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	564						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTGATAAGTGTGGTGATGTT	0.433000													55	31					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136945	40136945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:40136945G>C	ENST00000278198.2	-	2	2861	c.898C>G	c.(898-900)Cac>Gac	p.H300D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	300					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAGGGTTGTGATGTAAATGT	0.478000													32	62					0	0	0.012213	0	0
EML5	161436	broad.mit.edu	37	14	89088975	89088975	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:89088975A>G	ENST00000554922.1	-	37	5234	c.4986T>C	c.(4984-4986)gaT>gaC	p.D1662D	EML5_ENST00000553320.1_Intron|EML5_ENST00000352093.5_Silent_p.D1616D|EML5_ENST00000380664.5_Silent_p.D1654D	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1654						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACGAACACAATCTGTGGCTT	0.473000													23	55					0	0	0.003954	0	0
FSCB	84075	broad.mit.edu	37	14	44974135	44974135	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:44974135G>A	ENST00000340446.4	-	1	2347	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	686						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCCTCAGCTGGTAGAGACTGA	0.597000													14	16					0	0	0.016723	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648784	62648784	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:62648784C>T	ENST00000337910.5	-	6	979	c.642G>A	c.(640-642)ctG>ctA	p.L214L	RHOBTB1_ENST00000357917.4_Silent_p.L214L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	214					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCAGAATTGCAGGTGCCTGC	0.473000													64	229					0	0	0.014410	0	0
VIT	5212	broad.mit.edu	37	2	37035846	37035846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:37035846G>C	ENST00000379242.3	+	15	1923	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	VIT_ENST00000379241.3_Missense_Mutation_p.E504Q|VIT_ENST00000401530.1_Missense_Mutation_p.E505Q|VIT_ENST00000389975.3_Missense_Mutation_p.E526Q|VIT_ENST00000404084.1_Missense_Mutation_p.E478Q|VIT_ENST00000497382.1_Missense_Mutation_p.E195Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	526	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGAGTTTGAGATTTCCGA	0.582000													26	52					0	0	0.018920	0	0
HCAR3	8843	broad.mit.edu	37	12	123200755	123200755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:123200755C>T	ENST00000528880.2	-	1	684	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	177						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GAAGCTGATGCACACATTTGC	0.537000													29	53					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238249123	238249123	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:238249123G>A	ENST00000295550.4	-	38	8888	c.8436C>T	c.(8434-8436)ttC>ttT	p.F2812F	COL6A3_ENST00000409809.1_Silent_p.F2606F|COL6A3_ENST00000346358.4_Silent_p.F2612F|COL6A3_ENST00000353578.4_Silent_p.F2606F|COL6A3_ENST00000347401.3_Silent_p.F2611F|COL6A3_ENST00000472056.1_Silent_p.F2205F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2812	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2812F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCCTCCCGAAGCGCATCA	0.547000													20	35					0	0	0.008871	0	0
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:62812713C>G	ENST00000512091.1	+	15	3044	c.2297C>G	c.(2296-2298)aCg>aGg	p.T766R	LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514591.1_Missense_Mutation_p.T766R|LPHN3_ENST00000514996.1_Missense_Mutation_p.T766R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T766R|LPHN3_ENST00000511324.1_Missense_Mutation_p.T834R|LPHN3_ENST00000504896.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508946.1_Missense_Mutation_p.T766R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T834R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T834R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T834R|LPHN3_ENST00000545650.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506746.1_Missense_Mutation_p.T834R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAGTTGGGAACGGAAGCTTTG	0.403000													59	140					0	0	0.014410	0	0
SPAG16	79582	broad.mit.edu	37	2	214794821	214794821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:214794821T>C	ENST00000331683.5	+	12	1447	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	SPAG16_ENST00000374309.3_Missense_Mutation_p.V357A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	451					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCAATTTTGTGGCTTCCTCC	0.423000													28	41					0	0	0.004656	0	0
GRIA1	2890	broad.mit.edu	37	5	153056599	153056599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:153056599G>C	ENST00000285900.5	+	7	1250	c.907G>C	c.(907-909)Gct>Cct	p.A303P	GRIA1_ENST00000518142.1_Missense_Mutation_p.A223P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A303P|GRIA1_ENST00000518783.1_Missense_Mutation_p.A313P|GRIA1_ENST00000448073.4_Missense_Mutation_p.A313P|GRIA1_ENST00000521843.2_Missense_Mutation_p.A234P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	303					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATGGCTGAGGCTTTCCAGAG	0.562000													15	21					0	0	0.004007	0	0
PTPN1	5770	broad.mit.edu	37	20	49196356	49196356	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr20:49196356C>G	ENST00000371621.3	+	8	1155	c.981C>G	c.(979-981)ttC>ttG	p.F327L	PTPN1_ENST00000541713.1_Missense_Mutation_p.F254L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	327					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GCAGGGAGTTCTTCCCAAATC	0.572000											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	125					0	0	0.012213	0	0
PRDM11	56981	broad.mit.edu	37	11	45241231	45241231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:45241231G>A	ENST00000263765.4	+	7	1016	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.R222Q|PRDM11_ENST00000530656.1_Missense_Mutation_p.R256Q|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	256	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGTGGCTGCGGGTCTGGTAC	0.622000													11	29					0	0	0.010729	0	0
CADPS2	93664	broad.mit.edu	37	7	122028668	122028668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:122028668C>T	ENST00000334010.7	-	21	3548	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	CADPS2_ENST00000313070.7_Missense_Mutation_p.A999T|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.A999T|CADPS2_ENST00000449022.2_Missense_Mutation_p.A1045T|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1045	Interaction with DRD2.|MHD1.				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						ATATCACTGGCCATTAGTTTA	0.408000													6	7					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212530075	212530075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:212530075T>A	ENST00000342788.4	-	15	2154	c.1844A>T	c.(1843-1845)cAc>cTc	p.H615L	ERBB4_ENST00000402597.1_Missense_Mutation_p.H615L|ERBB4_ENST00000436443.1_Missense_Mutation_p.H615L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	615	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGCATGGGTGGCACTCCCG	0.473000										TSP Lung(8;0.080)			14	43					0	0	0.002450	0	0
HEATR5B	54497	broad.mit.edu	37	2	37232867	37232867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:37232867C>A	ENST00000233099.5	-	30	4908	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.E1605*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1605							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGGGCTCCTCAGGTCTAGGG	0.408000													15	30					0.000308642	0.000328106	0.003163	1	0
TP53	7157	broad.mit.edu	37	17	7577143	7577143	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:7577143C>A	ENST00000420246.2	-	8	927	c.795G>T	c.(793-795)ctG>ctT	p.L265L	TP53_ENST00000359597.4_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.L265L|TP53_ENST00000455263.2_Silent_p.L265L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTCCGTCCCAGTAGATTAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	13					5.18039e-06	5.71296e-06	0.003080	1	0
ANK2	287	broad.mit.edu	37	4	114290872	114290872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:114290872C>G	ENST00000357077.4	+	43	11574	c.11521C>G	c.(11521-11523)Ccg>Gcg	p.P3841A	ANK2_ENST00000264366.6_Missense_Mutation_p.P3808A|ANK2_ENST00000509550.1_Missense_Mutation_p.P932A|ANK2_ENST00000510275.2_Missense_Mutation_p.P408A|ANK2_ENST00000506722.1_Missense_Mutation_p.P1747A|ANK2_ENST00000394537.3_Missense_Mutation_p.P1756A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGAGCTCTCCGCGGAAAAC	0.537000													24	40					0	0	0.003954	0	0
RAI14	26064	broad.mit.edu	37	5	34823148	34823148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:34823148C>T	ENST00000265109.3	+	15	1488	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	RAI14_ENST00000512629.1_Missense_Mutation_p.P372S|RAI14_ENST00000515799.1_Missense_Mutation_p.P404S|RAI14_ENST00000397449.1_Missense_Mutation_p.P394S|RAI14_ENST00000506376.1_Missense_Mutation_p.P393S|RAI14_ENST00000503673.1_Missense_Mutation_p.P401S|RAI14_ENST00000428746.2_Missense_Mutation_p.P401S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	401						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTGGGAAAACCTGGTGAAAC	0.453000													25	53					0	0	0.018920	0	0
INTS8	55656	broad.mit.edu	37	8	95863869	95863869	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr8:95863869A>G	ENST00000523731.1	+	13	1729	c.1596A>G	c.(1594-1596)ttA>ttG	p.L532L	INTS8_ENST00000447247.1_Silent_p.L532L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	532					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAATTGAATTACATGGTATGA	0.363000													19	45					0	0	0.006122	0	0
MAVS	57506	broad.mit.edu	37	20	3845384	3845384	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr20:3845384C>T	ENST00000428216.2	+	6	1235	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	MAVS_ENST00000416600.2_Silent_p.L228L|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	369					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGGTGCTCACCAAGGTGT	0.592000													25	63					0	0	0.005443	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090369	238090369	+	RNA	SNP	C	C	G	rs41308192	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:238090369C>G	ENST00000450451.1	+	0	1875					NR_027247.2																						CCAACTGGGACGACATGGAGA	0.607000													13	38					0	0	0.002450	0	0
NCAM1	4684	broad.mit.edu	37	11	113076802	113076802	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:113076802C>A	ENST00000316851.7	+	4	498	c.498C>A	c.(496-498)atC>atA	p.I166I	NCAM1_ENST00000533760.1_Silent_p.I58I|NCAM1_ENST00000401611.2_Silent_p.I175I|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	176	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACCTGCAGATCCGGGGCATCA	0.507000													25	153					5.35356e-11	6.90404e-11	0.016522	1	0
ATP8A1	10396	broad.mit.edu	37	4	42588439	42588439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:42588439C>A	ENST00000381668.5	-	9	880	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G217C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	217					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAATTCTGCCAGAAATCCTC	0.343000													14	35					0.00316338	0.00327438	0.003163	1	0
DCUN1D3	123879	broad.mit.edu	37	16	20873496	20873496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:20873496G>T	ENST00000324344.3	-	2	650	c.365C>A	c.(364-366)cCc>cAc	p.P122H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P122H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AAATTCTGTGGGGTCAACACA	0.488000													31	91					3.80469e-20	5.71916e-20	0.009535	1	0
MAP3K5	4217	broad.mit.edu	37	6	136990474	136990474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:136990474A>G	ENST00000359015.4	-	8	1673	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	438					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAGGAGGAGGACCGCATA	0.388000													3	96					0	0	0.004672	0	0
PROL1	58503	broad.mit.edu	37	4	71275449	71275449	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:71275449T>G	ENST00000399575.2	+	3	578	c.404T>G	c.(403-405)cTt>cGt	p.L135R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	135	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCTATTTACCTTCCTATCTCT	0.433000													40	68					0	0	0.006230	0	0
TSIX	9383	broad.mit.edu	37	X	73048907	73048907	+	RNA	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:73048907T>G	ENST00000604411.1	+	0	36868				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACTTACTTCATTCAGCTATCC	0.458000													29	9					0	0	0.007291	0	0
PSMD11	5717	broad.mit.edu	37	17	30801833	30801833	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:30801833A>G	ENST00000261712.3	+	8	1103	c.840A>G	c.(838-840)gcA>gcG	p.A280A	PSMD11_ENST00000457654.2_Silent_p.A280A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	280	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TTCGGTATGCAGGGAGGCAGG	0.488000													3	47					0	0	0.004672	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751316	162751316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:162751316C>G	ENST00000375514.5	+	11	1552	c.1265C>G	c.(1264-1266)cCc>cGc	p.P422R	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P411R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P441R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P411R|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P441R	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	441					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAGAGCCTCCCAAAAATGTT	0.328000													18	57					0	0	0.010504	0	0
RELN	5649	broad.mit.edu	37	7	103216153	103216153	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:103216153C>A	ENST00000424685.2	-	29	4305		c.e29-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000428762.1_Splice_Site			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGGTCTTGCTGTTGGGAAA	0.403000													16	165					5.01169e-05	5.4255e-05	0.004990	1	0
ABI2	10152	broad.mit.edu	37	2	204255845	204255845	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:204255845T>A	ENST00000295851.4	+	5	853	c.557T>A	c.(556-558)aTg>aAg	p.M186K	ABI2_ENST00000422511.2_Missense_Mutation_p.M186K|ABI2_ENST00000430418.1_Missense_Mutation_p.M180K|ABI2_ENST00000261018.7_Missense_Mutation_p.M21K|ABI2_ENST00000424558.1_Missense_Mutation_p.M180K|ABI2_ENST00000261016.6_Missense_Mutation_p.M135K|ABI2_ENST00000261017.5_Missense_Mutation_p.M180K|ABI2_ENST00000430574.1_3'UTR			Q9NYB9	ABI2_HUMAN	abl-interactor 2	186	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGTCCCCCTATGTCAGGGAAA	0.388000													5	22					0	0	0.001984	0	0
POLA2	23649	broad.mit.edu	37	11	65048604	65048604	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:65048604C>G	ENST00000265465.3	+	8	1417	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	POLA2_ENST00000541089.1_Missense_Mutation_p.L88V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	296					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGAATATTCTCTGTTTCCTGG	0.517000													36	122					0	0	0.017118	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357567	118357567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:118357567A>G	ENST00000528052.1	+	8	774	c.703A>G	c.(703-705)Acg>Gcg	p.T235A	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235A|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTTTTGGAACGAACCAACA	0.463000													23	15					0	0	0.014323	0	0
CUL3	8452	broad.mit.edu	37	2	225368493	225368493	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:225368493A>C	ENST00000264414.4	-	9	1591	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	CUL3_ENST00000344951.4_Missense_Mutation_p.L352R|CUL3_ENST00000409096.1_Missense_Mutation_p.L394R|CUL3_ENST00000409777.1_Missense_Mutation_p.L394R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	418					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACCTAAAAAGGACCATTGC	0.303000													4	13					0	0	0.009096	0	0
CTNND2	1501	broad.mit.edu	37	5	11397162	11397162	+	Translation_Start_Site	SNP	G	G	A	rs141302945		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:11397162G>A	ENST00000458100.2	-	0	782				CTNND2_ENST00000304623.8_Missense_Mutation_p.T198M|CTNND2_ENST00000511377.1_Missense_Mutation_p.T107M|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.T198M			Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCTGGCCCGTAGCTCGGGC	0.607000													41	106					0	0	0.010771	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323300	57323300	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:57323300T>C	ENST00000293502.1	-	3	741	c.598A>G	c.(598-600)Att>Gtt	p.I200V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	200						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGGCTCAATGATGCAGACT	0.552000													31	33					0	0	0.009535	0	0
ATP2C2	9914	broad.mit.edu	37	16	84492912	84492912	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:84492912C>T	ENST00000416219.2	+	23	2342	c.2253C>T	c.(2251-2253)acC>acT	p.T751T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.T751T|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	751					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						CTCTGTCCACCGTGTTCAACC	0.642000													26	73					0	0	0.007291	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604315	111604315	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:111604315G>T	ENST00000478922.1	+	2	1534	c.1391G>T	c.(1390-1392)aGg>aTg	p.R464M	PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000481953.1_Intron			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCATCTACAGGGCAGCCTTG	0.468000													14	31					6.72482e-11	8.62532e-11	0.003163	1	0
TRPM6	140803	broad.mit.edu	37	9	77403655	77403655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:77403655C>T	ENST00000451710.3	-	20	2779	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A843T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A848T|TRPM6_ENST00000361255.3_Missense_Mutation_p.A843T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A848T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	848					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCAAATACGCCATCTGTGAG	0.532000													6	30					0	0	0.001168	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879476	39879476	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:39879476C>G	ENST00000530275.1	+	1	3326	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1044	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACCCCAGCAGAATCTGCC	0.662000													16	38					0	0	0.004990	0	0
TRPC3	7222	broad.mit.edu	37	4	122800901	122800901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:122800901C>G	ENST00000264811.5	-	11	2955	c.2537G>C	c.(2536-2538)aGa>aCa	p.R846T	TRPC3_ENST00000379645.3_Missense_Mutation_p.R919T|TRPC3_ENST00000513531.1_Missense_Mutation_p.R791T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	834					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCATTCACATCTCAGCATGCT	0.363000													14	35					0	0	0.003163	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873495	20873495	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:20873495G>T	ENST00000324344.3	-	2	651	c.366C>A	c.(364-366)ccC>ccA	p.P122P	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.P122P	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GAAATTCTGTGGGGTCAACAC	0.483000													31	90					3.80469e-20	5.71916e-20	0.009535	1	0
NPR3	4883	broad.mit.edu	37	5	32783095	32783095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:32783095C>G	ENST00000265074.8	+	6	1730	c.1387C>G	c.(1387-1389)Cga>Gga	p.R463G	NPR3_ENST00000434067.2_Missense_Mutation_p.R247G|NPR3_ENST00000415167.2_Missense_Mutation_p.R463G|NPR3_ENST00000415685.2_Missense_Mutation_p.R247G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	463					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGATGAAAACCGAATTGTAGA	0.383000													6	19					0	0	0.001168	0	0
CNGA3	1261	broad.mit.edu	37	2	99012576	99012576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:99012576C>A	ENST00000393504.1	+	8	1360	c.943C>A	c.(943-945)Cac>Aac	p.H315N	CNGA3_ENST00000436404.2_Missense_Mutation_p.H297N|CNGA3_ENST00000272602.2_Missense_Mutation_p.H315N|CNGA3_ENST00000409937.1_Missense_Mutation_p.H319N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	315					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCATCATCCACTGGAATGC	0.478000													89	88					7.2861e-57	1.14635e-56	0.014410	1	0
SI	6476	broad.mit.edu	37	3	164758778	164758778	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:164758778A>G	ENST00000264382.3	-	18	2171	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	703	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGGCTTTATAAAACAGAGTGT	0.348000										HNSCC(35;0.089)			27	74					0	0	0.005443	0	0
COL3A1	1281	broad.mit.edu	37	2	189849935	189849935	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:189849935C>A	ENST00000304636.3	+	3	465	c.295C>A	c.(295-297)Cct>Act	p.P99T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P99T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	99					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACTCGCCCTCCTAATGGTCA	0.343000													22	36					6.32553e-13	8.53043e-13	0.004656	1	0
OR7G2	390882	broad.mit.edu	37	19	9213869	9213869	+	Silent	SNP	C	C	T	rs141362700		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:9213869C>T	ENST00000305456.2	-	1	113	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATCCTCTATCAGTCCCAGGA	0.463000													20	42					0	0	0.008871	0	0
TAF4B	6875	broad.mit.edu	37	18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L|TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289000													9	13					0	0	0.008291	0	0
DPRX	503834	broad.mit.edu	37	19	54135364	54135364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:54135364C>A	ENST00000376650.1	+	1	55	c.4C>A	c.(4-6)Cca>Aca	p.P2T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTAGAAGATGCCAGGCTCAGA	0.498000													36	49					1.07637e-12	1.44331e-12	0.004878	1	0
AMPH	273	broad.mit.edu	37	7	38433765	38433765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:38433765G>A	ENST00000356264.2	-	18	1663	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	AMPH_ENST00000428293.2_Missense_Mutation_p.A441V|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.A441V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	483					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCCTCAGCTGCTGACACCAA	0.587000													55	66					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164781266	164781266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:164781266A>G	ENST00000264382.3	-	8	933	c.871T>C	c.(871-873)Tca>Cca	p.S291P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	291	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACACCGAATGACTTTCCAGAT	0.259000										HNSCC(35;0.089)			8	42					0	0	0.010729	0	0
ACTN1	87	broad.mit.edu	37	14	69345204	69345204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:69345204C>T	ENST00000394419.4	-	20	2580	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	ACTN1_ENST00000376839.3_Missense_Mutation_p.A708T|ACTN1_ENST00000193403.6_Intron|ACTN1_ENST00000438964.2_Missense_Mutation_p.A773T|ACTN1_ENST00000538545.2_Missense_Mutation_p.A773T	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1	787	EF-hand 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATCAGGCAGGCGCGGAAATCA	0.602000													17	24					0	0	0.006122	0	0
TENM1	10178	broad.mit.edu	37	X	123515059	123515059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:123515059T>C	ENST00000422452.2	-	32	7589	c.7526A>G	c.(7525-7527)aAt>aGt	p.N2509S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.N2502S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCGTCCATCATTGTATCGGGG	0.463000													60	32					0	0	0.014410	0	0
PCDH10	57575	broad.mit.edu	37	4	134073619	134073619	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:134073619C>A	ENST00000264360.4	+	1	3150	c.2324C>A	c.(2323-2325)gCc>gAc	p.A775D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	775					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCAAGCCCGGGCGCGC	0.592000													13	26					0.00010058	0.000107895	0.013537	1	0
SLC5A12	159963	broad.mit.edu	37	11	26725200	26725200	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:26725200G>A	ENST00000396005.3	-	6	1008	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SLC5A12_ENST00000280467.6_Silent_p.L233L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	233					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGTGTCGCCTGAGAGGATCTA	0.403000													29	49					0	0	0.007291	0	0
LAMA2	3908	broad.mit.edu	37	6	129723502	129723502	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:129723502A>G	ENST00000421865.2	+	39	5645	c.5596A>G	c.(5596-5598)Atg>Gtg	p.M1866V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1866	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCCACCTATGTCTGAGGA	0.423000													13	21					0	0	0.013537	0	0
ITGA4	3676	broad.mit.edu	37	2	182395331	182395331	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:182395331G>C	ENST00000397033.2	+	24	3049	c.2619G>C	c.(2617-2619)ttG>ttC	p.L873F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	873					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCAGACCTTGAAAGGCATAG	0.413000													23	48					0	0	0.016522	0	0
MAP4K4	9448	broad.mit.edu	37	2	102475479	102475479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:102475479G>C	ENST00000413150.2	+	14	1472	c.1417G>C	c.(1417-1419)Gaa>Caa	p.E473Q	MAP4K4_ENST00000350198.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E453Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E473Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E326Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E326Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	473					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGACAGCTAGAAGAGGAGCA	0.502000													27	165					0	0	0.007291	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													3	84					0	0	0.001984	0	0
COL12A1	1303	broad.mit.edu	37	6	75825753	75825753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:75825753C>T	ENST00000322507.8	-	48	7849	c.7540G>A	c.(7540-7542)Gat>Aat	p.D2514N	COL12A1_ENST00000345356.6_Missense_Mutation_p.D1350N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2514N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2514	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGTAGCCATCCAAATAAATG	0.328000													4	30					0	0	0.014758	0	0
AAR2	25980	broad.mit.edu	37	20	34828211	34828211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr20:34828211A>T	ENST00000373932.3	+	2	767	c.421A>T	c.(421-423)Agc>Tgc	p.S141C	AAR2_ENST00000320849.4_Missense_Mutation_p.S141C|AAR2_ENST00000397286.3_Missense_Mutation_p.S141C	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CAACTTCATCAGCGAAGCCAC	0.567000													78	81					0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238283189	238283189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:238283189G>T	ENST00000295550.4	-	8	3997	c.3545C>A	c.(3544-3546)cCg>cAg	p.P1182Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.P976Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.P982Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P775Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.P976Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P981Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.P575Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.P976Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1182	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAAAGTCCGGGATGAAGGA	0.622000													23	39					3.8784e-16	5.54729e-16	0.012319	1	0
CTNND2	1501	broad.mit.edu	37	5	10992676	10992676	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:10992676G>T	ENST00000304623.8	-	19	3387	c.3198C>A	c.(3196-3198)ccC>ccA	p.P1066P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.P975P|CTNND2_ENST00000458100.2_Silent_p.P633P|CTNND2_ENST00000503622.1_Silent_p.P729P|CTNND2_ENST00000359640.2_Silent_p.P1008P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1066					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCGGTTGTTGGGAGACACGC	0.592000													14	57					3.27435e-08	3.88315e-08	0.002450	1	0
POU3F4	5456	broad.mit.edu	37	X	82764275	82764275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:82764275C>T	ENST00000373200.2	+	1	1007	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	315					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCAGACAGCCTCCAGTTGGA	0.557000													11	9					0	0	0.010729	0	0
CEBPD	1052	broad.mit.edu	37	8	48649939	48649939	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr8:48649939C>A	ENST00000408965.3	-	1	1709	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	248	Leucine-zipper.		R -> W (in dbSNP:rs34948549).		transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TGAAGAACTGCCGGAGGCCGG	0.687000													11	30					1.58986e-06	1.77824e-06	0.008291	1	0
MYO3B	140469	broad.mit.edu	37	2	171259494	171259494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:171259494G>A	ENST00000334231.6	+	19	2293	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A756T|MYO3B_ENST00000409044.3_Missense_Mutation_p.A756T			Q8WXR4	MYO3B_HUMAN	myosin IIIB	756	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATGTTTTTGCTCTTGAGCA	0.398000													5	31					0	0	0.014758	0	0
ADRBK1	156	broad.mit.edu	37	11	67051732	67051732	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:67051732G>A	ENST00000308595.5	+	18	1832	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	514	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCACCATCTCGGAGCGGTGGC	0.592000													49	78					0	0	0.014410	0	0
ZRANB3	84083	broad.mit.edu	37	2	136107559	136107559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:136107559C>A	ENST00000401392.1	-	5	798	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.E196*|ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.E196*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	196	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATACCTCTTCAGGCCTTCCT	0.408000													11	36					4.3838e-07	5.02222e-07	0.016723	1	0
IGLV3-9	28804	broad.mit.edu	37	22	23162156	23162156	+	RNA	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:23162156C>A	ENST00000390316.2	+	0	364																											TCTCTGGCTCCAACTCGGGGA	0.597000													17	58					1.5739e-10	1.98631e-10	0.004007	1	0
CHD5	26038	broad.mit.edu	37	1	6172998	6172998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:6172998C>A	ENST00000262450.3	-	34	5072	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I	CHD5_ENST00000378021.1_Missense_Mutation_p.S515I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCCCCTCTGCTGTGGATCAA	0.592000													32	65					1.45844e-13	1.98954e-13	0.013726	1	0
SERPINA1	5265	broad.mit.edu	37	14	94845935	94845935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:94845935G>T	ENST00000448921.1	-	6	1503	c.931C>A	c.(931-933)Cat>Aat	p.H311N	SERPINA1_ENST00000449399.3_Missense_Mutation_p.H311N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.H311N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	311					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTGGGTAAATGTAAGCTGGCA	0.493000													30	80					5.60225e-13	7.59845e-13	0.009535	1	0
LIPI	149998	broad.mit.edu	37	21	15561702	15561702	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr21:15561702C>A	ENST00000344577.2	-	2	173	c.148G>T	c.(148-150)Gta>Tta	p.V50L	LIPI_ENST00000536861.1_Missense_Mutation_p.V29L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	29					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATCCTTTACACTTAGCTGA	0.358000													22	36					1.22574e-08	1.47589e-08	0.014323	1	0
TBC1D2	55357	broad.mit.edu	37	9	100963875	100963875	+	Missense_Mutation	SNP	G	G	T	rs148540803	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:100963875G>T	ENST00000375066.5	-	11	2434	c.2343C>A	c.(2341-2343)caC>caA	p.H781Q	TBC1D2_ENST00000375064.1_Missense_Mutation_p.H781Q|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H563Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.H321Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	781	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATCCACGTGGTGCTGCCCCA	0.607000													19	54					1.96292e-10	2.45106e-10	0.010504	1	0
FAM155A	728215	broad.mit.edu	37	13	107822853	107822853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:107822853C>A	ENST00000375915.2	-	3	1507	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	457						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGTTACTCCTCATTGGTTGAG	0.522000													31	19					2.61193e-14	3.62598e-14	0.009535	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342257	60342257	+	RNA	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:60342257G>T	ENST00000581291.1	-	0	1896																				breast(2)|kidney(1)|lung(2)	5						TGTCTCTCGAGCTGCACTCTT	0.488000													27	59					7.92952e-12	1.03965e-11	0.003954	1	0
ARID2	196528	broad.mit.edu	37	12	46215209	46215209	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:46215209G>T	ENST00000334344.6	+	6	816	c.644G>T	c.(643-645)gGa>gTa	p.G215V	ARID2_ENST00000422737.1_Missense_Mutation_p.G66V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	215					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTAGCTTTAGGATCCTTTTCC	0.254000			"""N, S, F"""		hepatocellular carcinoma								13	56					9.05144e-12	1.18019e-11	0.016723	1	0
OR56A1	120796	broad.mit.edu	37	11	6048915	6048915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:6048915G>T	ENST00000316650.5	-	1	56	c.20C>A	c.(19-21)tCa>tAa	p.S7*		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCTGGGTGACGCCATAGG	0.488000													38	101					1.47197e-15	2.09268e-15	0.007835	1	0
SFTPA2	729238	broad.mit.edu	37	10	81319105	81319105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:81319105G>T	ENST00000372325.2	-	3	219	c.135C>A	c.(133-135)gaC>gaA	p.D45E	SFTPA2_ENST00000372327.5_Missense_Mutation_p.D45E	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	45	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	p.D45D(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CATCTCTCCCGTCCCTGCCTG	0.622000									Pulmonary Fibrosis, Idiopathic				28	142					2.68265e-12	3.55677e-12	0.013726	1	0
COL11A1	1301	broad.mit.edu	37	1	103354187	103354187	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:103354187C>A	ENST00000358392.2	-	62	4908		c.e62-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCGGGTCCCTGTTAGAAAG	0.423000													14	41					1.3612e-06	1.53705e-06	0.003163	1	0
KCNT2	343450	broad.mit.edu	37	1	196295982	196295982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:196295982T>C	ENST00000367433.5	-	19	2242	c.2141A>G	c.(2140-2142)tAt>tGt	p.Y714C	KCNT2_ENST00000294725.8_Missense_Mutation_p.Y714C|KCNT2_ENST00000451324.2_Missense_Mutation_p.Y325C|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y664C|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	714						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGAATCCATAGGCTTTTGC	0.318000													22	55					0	0	0.018920	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135099030	135099030	+	Missense_Mutation	SNP	C	C	T	rs142228780	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:135099030C>T	ENST00000368563.2	-	12	2181	c.1825G>A	c.(1825-1827)Gcg>Acg	p.A609T	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A637T|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.A609T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A479T|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A202T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	609					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCGCTCAGCGCCAGCTCCGTG	0.642000													20	19					0	0	0.008871	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671407	112671407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:112671407C>A	ENST00000441065.2	+	3	809	c.497C>A	c.(496-498)cCg>cAg	p.P166Q		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	166	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGCAAGGAGCCGGCTGACAGA	0.547000													30	67					7.01153e-11	8.94444e-11	0.007291	1	0
LRP1	4035	broad.mit.edu	37	12	57550688	57550688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:57550688G>A	ENST00000243077.3	+	10	2012	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAGTGACGGGAAGTCATG	0.657000													3	10					0	0	0.009096	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729276	18729276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:18729276G>C	ENST00000600490.1	+	8	1059	c.874G>C	c.(874-876)Gcg>Ccg	p.A292P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A292P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	292						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTGGTGACCGCGCCTGGCCA	0.667000													3	14					0	0	0.009096	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72175990	72175990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:72175990G>A	ENST00000555818.1	+	15	4228	c.3880G>A	c.(3880-3882)Gcg>Acg	p.A1294T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A748T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1294	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAGCAATGCGTCAAGTGC	0.483000													17	56					0	0	0.008871	0	0
MARCH2	51257	broad.mit.edu	37	19	8486776	8486776	+	Missense_Mutation	SNP	G	G	A	rs141281179		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:8486776G>A	ENST00000602117.1	+	2	507	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	MARCH2_ENST00000393944.1_Missense_Mutation_p.G18S|MARCH2_ENST00000601283.1_Missense_Mutation_p.G18S|MARCH2_ENST00000215555.2_Missense_Mutation_p.G18S|MARCH2_ENST00000381035.4_Missense_Mutation_p.G18S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	18					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGACTGCTCCGGCAGCCCTGC	0.677000													22	67					0	0	0.014323	0	0
NCAM2	4685	broad.mit.edu	37	21	22696776	22696776	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr21:22696776C>T	ENST00000400546.1	+	6	942	c.693C>T	c.(691-693)tcC>tcT	p.S231S	NCAM2_ENST00000535285.1_Silent_p.S256S|NCAM2_ENST00000284894.7_Silent_p.S89S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	231	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGACATTTTCCTGCAGGGCCT	0.493000													17	56					0	0	0.006122	0	0
CNTN3	5067	broad.mit.edu	37	3	74350820	74350820	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:74350820C>A	ENST00000263665.6	-	14	1950	c.1923G>T	c.(1921-1923)gtG>gtT	p.V641V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGCCAACCCACGGAGAAAG	0.448000													25	19					4.26978e-12	5.62943e-12	0.018920	1	0
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr18:64172320C>G	ENST00000262150.2	-	12	2340	c.2048G>C	c.(2047-2049)aGg>aCg	p.R683T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483000													47	56					0	0	0.014410	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020772	33020772	+	RNA	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:33020772A>C	ENST00000565407.2	+	0	180				RP11-19N8.2_ENST00000567619.1_RNA																							GCCAGGCTCCAGGGAAGGGAC	0.562000													110	310					0	0	0.014410	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253791	32253791	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr21:32253791C>A	ENST00000332378.4	-	1	83	c.53G>T	c.(52-54)cGc>cTc	p.R18L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AACAATGCAGCGTCCTCCAAT	0.547000													34	59					2.48696e-23	3.78659e-23	0.015359	1	0
ATP11C	286410	broad.mit.edu	37	X	138899028	138899028	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:138899028G>A	ENST00000370557.1	-	4	1339	c.312C>T	c.(310-312)atC>atT	p.I104I	ATP11C_ENST00000370543.1_Silent_p.I107I|ATP11C_ENST00000327569.3_Silent_p.I107I|ATP11C_ENST00000359686.2_Silent_p.I107I|ATP11C_ENST00000361648.2_Silent_p.I107I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	107					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGCTTGATGGCTGTAA	0.368000													17	21					0	0	0.006122	0	0
BRWD3	254065	broad.mit.edu	37	X	79999656	79999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:79999656C>A	ENST00000373275.4	-	8	904	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	230										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATAGTTAACAGCCATGTCA	0.448000													23	17					6.36457e-07	7.25623e-07	0.003954	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499694	104499694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:104499694C>T	ENST00000361820.3	-	1	1168	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	190					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACCCCTTGCACCACCACGGTA	0.587000													17	45					0	0	0.004007	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329127	144329127	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:144329127C>T	ENST00000370493.3	+	1	780	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	7										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCAAGCATCAATGGGG	0.448000													46	41					0	0	0.014410	0	0
CABIN1	23523	broad.mit.edu	37	22	24515613	24515613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:24515613A>G	ENST00000398319.2	+	28	4965	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1527C|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1448C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1527					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCAGCACTATAAGAGTCTC	0.647000													80	141					0	0	0.014410	0	0
PEX6	5190	broad.mit.edu	37	6	42936617	42936617	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:42936617G>A	ENST00000304611.8	-	6	1543	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	PEX6_ENST00000244546.4_Silent_p.L492L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	492					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCAGTAAGTGGAGC	0.587000													29	15					0	0	0.007291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582000													3	14					0	0	0.004672	0	0
FCN2	2220	broad.mit.edu	37	9	137772670	137772670	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:137772670G>T	ENST00000350339.2	+	1	17	c.3G>T	c.(1-3)atG>atT	p.M1I	FCN2_ENST00000291744.6_Start_Codon_SNP_p.M1I	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	1					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGAAGAGATGGAGCTGGACA	0.592000													14	29					6.31663e-08	7.45362e-08	0.003163	1	0
G6PC2	57818	broad.mit.edu	37	2	169764237	169764237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:169764237C>A	ENST00000375363.3	+	5	808	c.716C>A	c.(715-717)gCc>gAc	p.A239D	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	239					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGCCCATAGCCAAAAAGTGG	0.512000													30	59					8.16721e-17	1.18979e-16	0.010818	1	0
ZNF385B	151126	broad.mit.edu	37	2	180409678	180409678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:180409678G>A	ENST00000410066.1	-	4	875	c.272C>T	c.(271-273)aCt>aTt	p.T91I	ZNF385B_ENST00000409692.1_5'UTR|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.T15I	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	91						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGGAAGGGTAGTAGTGTGGCA	0.448000													37	88					0	0	0.017118	0	0
C1orf64	149563	broad.mit.edu	37	1	16332707	16332707	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:16332707C>T	ENST00000329454.2	+	2	444	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	126										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGTCAGCCCGCTCTGCCC	0.647000													20	35					0	0	0.008871	0	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:7577142C>A	ENST00000420246.2	-	8	928	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTCCGTCCCAGTAGATTA	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	13					5.18039e-06	5.71296e-06	0.003080	1	0
LARGE	9215	broad.mit.edu	37	22	33733754	33733754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:33733754C>A	ENST00000354992.2	-	11	1736	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Missense_Mutation_p.V188L|LARGE_ENST00000437602.2_Missense_Mutation_p.V389L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Missense_Mutation_p.V389L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	389					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGTTCTTCACCCGGAGCTTC	0.557000													11	27					0.000151284	0.000161553	0.016723	1	0
ZW10	9183	broad.mit.edu	37	11	113639651	113639651	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:113639651T>A	ENST00000200135.3	-	2	288	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	48	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGGCAGGAATTCACTGTACT	0.403000													62	66					0	0	0.014410	0	0
RBM19	9904	broad.mit.edu	37	12	114261056	114261056	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:114261056G>A	ENST00000545145.2	-	24	2934	c.2856C>T	c.(2854-2856)gaC>gaT	p.D952D	RBM19_ENST00000261741.5_Silent_p.D952D|RBM19_ENST00000392561.3_Silent_p.D952D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	952					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCTCGCTGTCGCTGTCAC	0.637000													16	32					0	0	0.006122	0	0
DYRK4	8798	broad.mit.edu	37	12	4721873	4721873	+	Missense_Mutation	SNP	C	C	G	rs141423818	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:4721873C>G	ENST00000540757.2	+	12	1470	c.1310C>G	c.(1309-1311)tCg>tGg	p.S437W	DYRK4_ENST00000545342.1_Missense_Mutation_p.S74W|DYRK4_ENST00000010132.5_Missense_Mutation_p.S437W|DYRK4_ENST00000543431.1_Missense_Mutation_p.S437W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	437						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468000													42	49					0	0	0.009718	0	0
TGFB2	7042	broad.mit.edu	37	1	218614596	218614596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:218614596C>A	ENST00000366929.4	+	8	1688	c.1221C>A	c.(1219-1221)tgC>tgA	p.C407*	TGFB2_ENST00000366930.4_Nonsense_Mutation_p.C379*|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTCTCCTTGCTGCGTGTCCC	0.403000													28	59					4.87955e-14	6.6952e-14	0.005443	1	0
MYH9	4627	broad.mit.edu	37	22	36689419	36689419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:36689419C>G	ENST00000216181.5	-	30	4281	c.4051G>C	c.(4051-4053)Gcc>Ccc	p.A1351P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1351					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCC	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	56					0	0	0.008361	0	0
OR4A15	81328	broad.mit.edu	37	11	55136211	55136211	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:55136211C>A	ENST00000314706.3	+	1	852	c.852C>A	c.(850-852)ttC>ttA	p.F284L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408000													51	214					5.39261e-20	8.00413e-20	0.014410	1	0
RNASEH1	246243	broad.mit.edu	37	2	3598055	3598055	+	Silent	SNP	G	G	A	rs139176330		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:3598055G>A	ENST00000315212.3	-	4	772	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	139	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AGACGACGACGAAGTCTCCTG	0.493000													4	123					0	0	0.009096	0	0
PDE1C	5137	broad.mit.edu	37	7	32209516	32209516	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:32209516C>A	ENST00000396193.1	-	3	782	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCTTGACATTCCCTGTGAGCC	0.517000													25	105					3.6726e-16	5.28496e-16	0.003954	1	0
NTM	50863	broad.mit.edu	37	11	132016264	132016264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:132016264C>T	ENST00000374786.1	+	2	735	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_ENST00000539799.1_Missense_Mutation_p.P86S|NTM_ENST00000374791.3_Missense_Mutation_p.P86S|NTM_ENST00000427481.2_Missense_Mutation_p.P77S|NTM_ENST00000374784.1_Missense_Mutation_p.P86S|NTM_ENST00000425719.2_Missense_Mutation_p.P86S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	86	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572000													21	71					0	0	0.012319	0	0
EPHA8	2046	broad.mit.edu	37	1	22927549	22927549	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:22927549T>C	ENST00000166244.3	+	15	2769	c.2697T>C	c.(2695-2697)ccT>ccC	p.P899P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	899						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCAGCCCTGAGAGTCTCA	0.647000													3	87					0	0	0.009096	0	0
SYDE2	84144	broad.mit.edu	37	1	85647842	85647842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:85647842C>T	ENST00000341460.5	-	3	2532	c.2483G>A	c.(2482-2484)gGa>gAa	p.G828E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	828	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCATCAGTCCTATATTTTC	0.348000													3	16					0	0	0.009096	0	0
IL1A	3552	broad.mit.edu	37	2	113535595	113535595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:113535595G>A	ENST00000263339.3	-	6	739	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	195					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TTCATCTTGGGCAGTCACATA	0.388000													14	58					0	0	0.003163	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43691705	43691705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:43691705A>T	ENST00000395809.1	-	13	3939	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.L478Q|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.L486Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	478					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCTGTTCAGAAGGGTGGT	0.597000													27	66					0	0	0.005443	0	0
TPI1	7167	broad.mit.edu	37	12	6976735	6976735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:6976735C>T	ENST00000229270.4	+	1	453	c.116C>T	c.(115-117)gCg>gTg	p.A39V	TPI1_ENST00000396705.5_Missense_Mutation_p.A2V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	2					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGCGCCATGGCGCCCTCCAGG	0.642000													8	18					0	0	0.004482	0	0
RARS	5917	broad.mit.edu	37	5	167921571	167921571	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:167921571C>T	ENST00000231572.3	+	5	549	c.495C>T	c.(493-495)caC>caT	p.H165H	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	165					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTAATGTCCACTTAAGAAAGG	0.358000													8	28					0	0	0.004482	0	0
HSPA14	51182	broad.mit.edu	37	10	14894529	14894529	+	Splice_Site	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:14894529A>T	ENST00000378372.3	+	8	972	c.734_splice	c.e8+1	p.R245_splice		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	245					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGAGTTCCAAAGGTGAGTGTT	0.358000													30	61					0	0	0.012213	0	0
APBA2	321	broad.mit.edu	37	15	29346999	29346999	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr15:29346999C>T	ENST00000558402.1	+	5	1511	c.912C>T	c.(910-912)acC>acT	p.T304T	APBA2_ENST00000561069.1_Silent_p.T304T|APBA2_ENST00000411764.1_Silent_p.T304T|APBA2_ENST00000558330.1_Silent_p.T304T|APBA2_ENST00000558259.1_Silent_p.T304T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	304					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCCCAAGACCAGGACCCCAG	0.677000													5	24					0	0	0.014758	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74015431	74015431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:74015431C>G	ENST00000476977.1	+	26	4381	c.2690C>G	c.(2689-2691)tCc>tGc	p.S897C	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S929C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S897C|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.S912C			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	912						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATTCCGTctcctcttcctcc	0.542000													23	27					0	0	0.012319	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671295	112671295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:112671295G>T	ENST00000441065.2	+	3	697	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	129	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTGACAAAAGATCCCAGGCT	0.557000													22	38					3.5997e-14	4.96801e-14	0.014323	1	0
NCDN	23154	broad.mit.edu	37	1	36028893	36028893	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:36028893G>C	ENST00000373243.2	+	5	1859	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	NCDN_ENST00000373253.3_Missense_Mutation_p.K475N|NCDN_ENST00000356090.4_Missense_Mutation_p.K492N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	492					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTGTGCAAGTATTTCCTGC	0.622000													31	81					0	0	0.008361	0	0
GPER1	2852	broad.mit.edu	37	7	1131629	1131629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:1131629G>A	ENST00000397092.1	+	3	1149	c.265G>A	c.(265-267)Gag>Aag	p.E89K	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.E89K|GPER_ENST00000397088.3_Missense_Mutation_p.E89K|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.E89K	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		89						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CAGCTTCCGCGAGAAGATGAC	0.582000													15	51					0	0	0.002450	0	0
FTCD	10841	broad.mit.edu	37	21	47570433	47570433	+	Missense_Mutation	SNP	G	G	C	rs149667449	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr21:47570433G>C	ENST00000397748.1	-	6	686	c.643C>G	c.(643-645)Cgt>Ggt	p.R215G	FTCD_ENST00000359679.2_Missense_Mutation_p.R215G|FTCD_ENST00000355384.2_Missense_Mutation_p.R215G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.R215G|FTCD_ENST00000397743.1_Missense_Mutation_p.R215G|FTCD_ENST00000397746.3_Missense_Mutation_p.R215G			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	215	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.R215C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCTTCAGACGTCCTGGCTGC	0.577000													16	46					0	0	0.004007	0	0
GPR139	124274	broad.mit.edu	37	16	20043388	20043388	+	Missense_Mutation	SNP	C	C	G	rs140063049	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:20043388C>G	ENST00000570682.1	-	2	1031	c.731G>C	c.(730-732)cGc>cCc	p.R244P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCA	0.542000													27	59					0	0	0.003954	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922823	43922823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:43922823A>T	ENST00000329196.5	+	1	568	c.551A>T	c.(550-552)gAc>gTc	p.D184V	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	184						integral to membrane	aspartic-type endopeptidase activity										CCCATCATCGACTACAACATG	0.637000													37	86					0	0	0.004878	0	0
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:95795123C>A	ENST00000375482.3	+	16	2249	c.1753C>A	c.(1753-1755)Ctg>Atg	p.L585M	FGD3_ENST00000337352.6_Missense_Mutation_p.L585M|FGD3_ENST00000538555.1_Missense_Mutation_p.L188M|FGD3_ENST00000416701.2_Missense_Mutation_p.L585M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637000													42	112					2.45108e-15	3.44318e-15	0.008740	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68184172	68184172	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr8:68184172C>A	ENST00000262215.3	-	10	1727		c.e10-1			NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATGAGACCTAAAATGTAA	0.318000													12	13					6.40141e-05	6.89832e-05	0.010729	1	0
UBBP4	23666	broad.mit.edu	37	17	21730864	21730864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:21730864C>A	ENST00000584755.1	+	2	563	c.166C>A	c.(166-168)Ctt>Att	p.L56I	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.L56I																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGGCCGCAGTCTTTCTGACTA	0.512000													26	41					3.6726e-16	5.28496e-16	0.003954	1	0
CCDC39	339829	broad.mit.edu	37	3	180349272	180349272	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:180349272G>T	ENST00000273654.4	-	20	2854	c.2235C>A	c.(2233-2235)gcC>gcA	p.A745A	CCDC39_ENST00000442201.2_Silent_p.A661A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTACATAATAGGCCTGTGTTT	0.328000													11	40					1.58986e-06	1.77824e-06	0.008291	1	0
RIMS2	9699	broad.mit.edu	37	8	105026790	105026790	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr8:105026790G>T	ENST00000507740.1	+	17	2959	c.2723G>T	c.(2722-2724)gGa>gTa	p.G908V	RIMS2_ENST00000262231.10_Missense_Mutation_p.G933V|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1094V|RIMS2_ENST00000436393.2_Missense_Mutation_p.G834V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1156	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCGCAGGACGAAGGGGC	0.438000										HNSCC(12;0.0054)			21	26					4.63292e-17	6.79112e-17	0.008871	1	0
APLP1	333	broad.mit.edu	37	19	36362583	36362583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:36362583C>T	ENST00000221891.4	+	5	799	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	APLP1_ENST00000537454.2_Missense_Mutation_p.R164C|APLP1_ENST00000586861.1_Missense_Mutation_p.R197C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	203					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R203C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATCGGTTCCGTGGTGTGGA	0.637000													23	26					0	0	0.012319	0	0
FKTN	2218	broad.mit.edu	37	9	108366711	108366711	+	Silent	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:108366711T>A	ENST00000223528.2	+	5	709	c.585T>A	c.(583-585)atT>atA	p.I195I	FKTN_ENST00000357998.5_Silent_p.I195I|FKTN_ENST00000448551.2_Silent_p.I195I|FKTN_ENST00000602661.1_Silent_p.I195I|FKTN_ENST00000540160.1_Silent_p.I195I	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	195					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAGAACACATTGACAGGAAAT	0.443000													16	34					0	0	0.003163	0	0
N4BP1	9683	broad.mit.edu	37	16	48595684	48595684	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:48595684A>G	ENST00000262384.3	-	2	1106	c.870T>C	c.(868-870)tcT>tcC	p.S290S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	290					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCCTTTCTTCAGAATCAGAAA	0.408000													19	46					0	0	0.008871	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779616	76779616	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:76779616C>A	ENST00000328299.3	+	2	293	c.145C>A	c.(145-147)Cca>Aca	p.P49T	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	49					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGTGGATACCATTCTCCTA	0.453000													32	62					2.08457e-15	2.94586e-15	0.010818	1	0
SLC12A4	6560	broad.mit.edu	37	16	67984561	67984561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:67984561C>T	ENST00000422611.2	-	10	1495	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	SLC12A4_ENST00000541864.2_Missense_Mutation_p.D453N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D436N|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D484N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D478N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D484N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	484					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTCACTTGTCCCGGAGAACC	0.632000													3	15					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100685833	100685833	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:100685833C>T	ENST00000306151.4	+	3	11200	c.11136C>T	c.(11134-11136)agC>agT	p.S3712S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3712	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAGGGTAGCACCCTTTCAA	0.507000													441	189					0	0	0.014410	0	0
NPVF	64111	broad.mit.edu	37	7	25266438	25266438	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:25266438T>C	ENST00000222674.2	-	2	392	c.346A>G	c.(346-348)Atg>Gtg	p.M116V		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	116					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCACCTCCATATTTCTTCCA	0.493000													48	119					0	0	0.014410	0	0
MYO15A	51168	broad.mit.edu	37	17	18067125	18067125	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:18067125T>A	ENST00000205890.5	+	60	10098	c.9760T>A	c.(9760-9762)Tat>Aat	p.Y3254N	MYO15A_ENST00000418233.3_Missense_Mutation_p.Y518N|MYO15A_ENST00000451725.2_Missense_Mutation_p.Y146N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3254	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCAATGAATATGTTATCTT	0.597000													7	17					0	0	0.003080	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602128	13602128	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:13602128G>T	ENST00000040738.5	-	10	6531	c.6396C>A	c.(6394-6396)gcC>gcA	p.A2132A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2132							DNA binding										CACTTCTGCTGGCAGTGAGTT	0.473000													14	35					1.5842e-08	1.89782e-08	0.016723	1	0
PTCHD2	57540	broad.mit.edu	37	1	11562935	11562935	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L650L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATGCTGGCCAAGCA	0.522000													3	54					0	0	0.004672	0	0
IGFBP1	3484	broad.mit.edu	37	7	45928583	45928583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:45928583C>A	ENST00000275525.3	+	1	628	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	IGFBP1_ENST00000468955.1_Missense_Mutation_p.S111Y|IGFBP1_ENST00000457280.1_Missense_Mutation_p.S111Y	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	111						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCTGACGCCTCCGCTCCCCAT	0.741000													4	4					0.00909568	0.00933296	0.009096	1	0
RNF123	63891	broad.mit.edu	37	3	49738099	49738099	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:49738099C>T	ENST00000327697.6	+	15	1378	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	RNF123_ENST00000432042.1_Silent_p.L266L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	412						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TATCGCCATCCTGAGGCATGA	0.607000													25	38					0	0	0.003954	0	0
OR6V1	346517	broad.mit.edu	37	7	142750110	142750110	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:142750110C>A	ENST00000418316.1	+	1	694	c.673C>A	c.(673-675)Cgg>Agg	p.R225R		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CACTGTGCTGCGGATCCCCTC	0.532000													55	63					2.12129e-23	3.2508e-23	0.014410	1	0
COL11A1	1301	broad.mit.edu	37	1	103471395	103471395	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:103471395C>A	ENST00000358392.2	-	18	2197	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_ENST00000512756.1_Splice_Site_p.R499_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Splice_Site_p.R615_splice|COL11A1_ENST00000353414.4_Splice_Site_p.R576_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	615	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343000													26	64					2.12542e-12	2.83389e-12	0.006320	1	0
LRP2	4036	broad.mit.edu	37	2	170129512	170129512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:170129512C>A	ENST00000263816.3	-	15	2326	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	LRP2_ENST00000443831.1_Missense_Mutation_p.D612Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	681	EGF-like 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCATTATCTGTTCTGTGG	0.463000													48	116					8.00217e-19	1.18032e-18	0.014410	1	0
TECPR1	25851	broad.mit.edu	37	7	97872809	97872809	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:97872809C>A	ENST00000447648.2	-	6	926	c.627G>T	c.(625-627)ctG>ctT	p.L209L	TECPR1_ENST00000542604.1_Silent_p.L130L|TECPR1_ENST00000379795.3_Silent_p.L209L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	209						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACACTGACAGGCGGCCCA	0.647000													84	47					1.51188e-25	2.34739e-25	0.014410	1	0
SVEP1	79987	broad.mit.edu	37	9	113169643	113169643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:113169643C>A	ENST00000401783.2	-	38	8573	c.8237G>T	c.(8236-8238)gGa>gTa	p.G2746V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2723V|SVEP1_ENST00000297826.5_Missense_Mutation_p.G672V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2746	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGAATGTGTCCAGGTTTACA	0.443000													28	65					1.26454e-06	1.43477e-06	0.005443	1	0
CEP164	22897	broad.mit.edu	37	11	117282544	117282544	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:117282544G>A	ENST00000278935.3	+	32	4344	c.4197G>A	c.(4195-4197)tcG>tcA	p.S1399S	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1399					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCCCATTCGCAAGTCCCTG	0.582000													5	120					0	0	0.001168	0	0
ARMC2	84071	broad.mit.edu	37	6	109215694	109215694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:109215694G>T	ENST00000392644.4	+	6	864	c.696G>T	c.(694-696)agG>agT	p.R232S	ARMC2_ENST00000368972.3_Missense_Mutation_p.R67S	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	232							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GACATGCGAGGGCCTCATCAT	0.488000													22	56					7.41877e-09	8.97862e-09	0.012319	1	0
LAMB1	3912	broad.mit.edu	37	7	107580499	107580499	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:107580499G>C	ENST00000393561.1	-	23	3952	c.3768C>G	c.(3766-3768)gaC>gaG	p.D1256E	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1232E			P07942	LAMB1_HUMAN	laminin, beta 1	1232	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCCAGGATGTCTTTTATCT	0.498000													36	37					0	0	0.013726	0	0
SPERT	220082	broad.mit.edu	37	13	46288501	46288501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:46288501G>T	ENST00000378966.3	+	2	1649	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	SPERT_ENST00000310521.1_Missense_Mutation_p.R447S			Q8NA61	SPERT_HUMAN	spermatid associated	447						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCTAGCAGGGTCTGAGGCC	0.622000													6	7					3.59834e-05	3.9134e-05	0.001168	1	0
NSD1	64324	broad.mit.edu	37	5	176687055	176687055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:176687055G>T	ENST00000439151.2	+	14	5077	c.5032G>T	c.(5032-5034)Ggg>Tgg	p.G1678W	NSD1_ENST00000354179.4_Missense_Mutation_p.G1409W|NSD1_ENST00000347982.4_Missense_Mutation_p.G1409W|NSD1_ENST00000361032.4_Missense_Mutation_p.G1575W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1678					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGCTGCTGGGTCAAAGAT	0.488000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	30					1.49906e-05	1.63786e-05	0.002450	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342256	60342256	+	RNA	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:60342256A>T	ENST00000581291.1	-	0	1897																				breast(2)|kidney(1)|lung(2)	5						ATGTCTCTCGAGCTGCACTCT	0.488000													27	59					0	0	0.003954	0	0
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:5758676C>T	ENST00000317121.3	+	1	996	c.930C>T	c.(928-930)gcC>gcT	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418000													44	107					0	0	0.007835	0	0
RGL3	57139	broad.mit.edu	37	19	11510580	11510580	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:11510580G>T	ENST00000380456.3	-	16	1760	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	RGL3_ENST00000393423.3_Missense_Mutation_p.P572H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	566	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACTGCCAGCAGGAGCATCTCT	0.667000													22	37					7.41877e-09	8.97862e-09	0.012319	1	0
FAT4	79633	broad.mit.edu	37	4	126408505	126408505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:126408505G>T	ENST00000394329.3	+	16	12835	c.12822G>T	c.(12820-12822)aaG>aaT	p.K4274N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2515N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4274	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACAGATTAAGAATGGCAAAG	0.318000													7	17					0.00198382	0.00206247	0.001984	1	0
PNPLA7	375775	broad.mit.edu	37	9	140438232	140438232	+	Silent	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:140438232A>C	ENST00000406427.1	-	5	645	c.309T>G	c.(307-309)acT>acG	p.T103T	PNPLA7_ENST00000277531.4_Silent_p.T78T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	78					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGGCAGGGCAGTGTTCTCCA	0.622000													21	64					0	0	0.012319	0	0
C8A	731	broad.mit.edu	37	1	57341807	57341807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:57341807G>A	ENST00000361249.3	+	4	485	c.389G>A	c.(388-390)tGt>tAt	p.C130Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	130	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGACGACTGTGAAGATGTC	0.542000													16	38					0	0	0.003163	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679898	3679898	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr20:3679898G>C	ENST00000344754.4	-	7	1736	c.1737C>G	c.(1735-1737)gaC>gaG	p.D579E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D579E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	579	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACTGTGGCCGTCCCGGGCCC	0.692000													7	15					0	0	0.001984	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	RNA	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607000													3	14					0	0	0.004672	0	0
MBD5	55777	broad.mit.edu	37	2	149247953	149247953	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:149247953C>A	ENST00000407073.1	+	12	5050	c.4053C>A	c.(4051-4053)agC>agA	p.S1351R	MBD5_ENST00000404807.1_Missense_Mutation_p.S1584R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1351						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGTGCCTAGCCCTTCAGATG	0.408000													21	47					1.01871e-10	1.29256e-10	0.008871	1	0
GPC5	2262	broad.mit.edu	37	13	92345880	92345880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:92345880G>C	ENST00000377067.3	+	3	1137	c.765G>C	c.(763-765)atG>atC	p.M255I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	255						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCTGAAGATGCAATACTGCC	0.552000													30	25					0	0	0.009535	0	0
HIF1A	3091	broad.mit.edu	37	14	62204929	62204929	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:62204929G>A	ENST00000394997.1	+	10	1642	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.T482T|HIF1A_ENST00000337138.4_Silent_p.T458T|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Silent_p.T458T|HIF1A_ENST00000557538.1_Silent_p.T399T			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	458	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CCGCTGAAACGCCAAAGCCAC	0.403000													49	81					0	0	0.014410	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410744	119410744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:119410744T>C	ENST00000371369.4	-	7	897	c.671A>G	c.(670-672)gAc>gGc	p.D224G	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D84G|TMEM255A_ENST00000309720.5_Missense_Mutation_p.D248G	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CCTTACCATGTCCTTAAAGCC	0.507000													26	10					0	0	0.004656	0	0
PROSER2	254427	broad.mit.edu	37	10	11911812	11911812	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:11911812G>T	ENST00000277570.5	+	4	869	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.G43C	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		TGGAGACCCTGGCCCGGGGCC	0.766000													9	14					3.09899e-07	3.56761e-07	0.004482	1	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	71					0	0	0.001168	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215500	8215500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:8215500G>A	ENST00000361926.3	+	2	253	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R48Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	48	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R48Q(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAACTACCCCGAAACTCCAAT	0.632000													50	97					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153056596	153056596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:153056596G>T	ENST00000285900.5	+	7	1247	c.904G>T	c.(904-906)Gag>Tag	p.E302*	GRIA1_ENST00000518142.1_Nonsense_Mutation_p.E222*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.E302*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.E312*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.E312*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.E233*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	302					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGATGGCTGAGGCTTTCCA	0.552000													17	23					1.67942e-08	2.00173e-08	0.006122	1	0
SNORD114-27	767608	broad.mit.edu	37	14	101454501	101454501	+	RNA	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:101454501T>A	ENST00000363766.1	+	0	4					NR_003220.1																						AGAATCCTGGTTCAGTGTTGA	0.333000													16	30					0	0	0.003163	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862797	10862797	+	RNA	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr21:10862797G>T	ENST00000559480.1	+	0	93																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGAGGTGAAGAAGCCTGGGG	0.572000													55	146					1.17673e-23	1.81508e-23	0.014410	1	0
PON1	5444	broad.mit.edu	37	7	94946068	94946068	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr7:94946068T>G	ENST00000222381.3	-	3	410	c.179A>C	c.(178-180)aAt>aCt	p.N60T	PON1_ENST00000542556.1_Missense_Mutation_p.N60T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	60					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGCCAGTCCATTAGGCAGTAT	0.398000													46	323					0	0	0.014410	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378576	130378576	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:130378576G>T	ENST00000529410.1	+	11	1172	c.693G>T	c.(691-693)gcG>gcT	p.A231A	L3MBTL3_ENST00000533560.1_Silent_p.A206A|L3MBTL3_ENST00000361794.2_Silent_p.A231A|L3MBTL3_ENST00000526019.1_Silent_p.A206A|L3MBTL3_ENST00000368136.2_Silent_p.A231A|L3MBTL3_ENST00000368139.2_Silent_p.A206A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	231					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAAGAAAGCGTGGTGCTGGG	0.522000													7	17					1.26484e-09	1.55471e-09	0.003080	1	0
RIN3	79890	broad.mit.edu	37	14	93151468	93151468	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:93151468G>A	ENST00000216487.7	+	9	2763	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	868					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCTCAACAAGGCCCGGGCCT	0.662000													10	33					0	0	0.006214	0	0
DNAJB14	79982	broad.mit.edu	37	4	100830007	100830007	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:100830007T>C	ENST00000442697.2	-	4	652	c.498A>G	c.(496-498)aaA>aaG	p.K166K		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	166	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGTCATACTGTTTTCGCTTTT	0.348000													21	40					0	0	0.018920	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175117	73175117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr4:73175117G>A	ENST00000286657.4	-	15	2212	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	726	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTTACCAAGCTTCCTGGGA	0.408000													18	38					0	0	0.010504	0	0
GCNT2	2651	broad.mit.edu	37	6	10529410	10529410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:10529410C>T	ENST00000379597.3	+	1	822	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428000													31	43					0	0	0.008361	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328994	88328994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:88328994C>A	ENST00000325089.6	+	2	1570	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R210S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	451						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GATCCAGGACCGCGCTTTCGG	0.597000													35	21					9.65963e-10	1.19355e-09	0.015359	1	0
NPAS3	64067	broad.mit.edu	37	14	34243588	34243588	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:34243588C>A	ENST00000346562.2	+	7	876	c.802C>A	c.(802-804)Cac>Aac	p.H268N	NPAS3_ENST00000551492.1_Missense_Mutation_p.H305N|NPAS3_ENST00000357798.5_Missense_Mutation_p.H287N|NPAS3_ENST00000548645.1_Missense_Mutation_p.H270N|NPAS3_ENST00000356141.4_Missense_Mutation_p.H300N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTCGCTGTCCCACGGGAGGAC	0.498000													22	73					1.50039e-11	1.94556e-11	0.012319	1	0
DOCK10	55619	broad.mit.edu	37	2	225717743	225717743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:225717743G>T	ENST00000409592.3	-	17	2080	c.1967C>A	c.(1966-1968)aCa>aAa	p.T656K	DOCK10_ENST00000258390.7_Missense_Mutation_p.T662K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	662							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACAATACTTTGTTGAATCGTA	0.368000													22	38					1.28384e-07	1.49254e-07	0.012319	1	0
DCLK1	9201	broad.mit.edu	37	13	36700222	36700222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr13:36700222G>A	ENST00000255448.4	-	2	264	c.53C>T	c.(52-54)gCg>gTg	p.A18V	DCLK1_ENST00000379892.4_Missense_Mutation_p.A18V|DCLK1_ENST00000360631.3_Missense_Mutation_p.A18V	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622000													25	41					0	0	0.007291	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331685	18331685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:18331685C>A	ENST00000377369.2	+	13	2272	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SLC39A12_ENST00000377374.4_Missense_Mutation_p.L630M|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L533M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L666M	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGTTTCTCCTGCAAAACTT	0.353000													16	61					6.94344e-10	8.62449e-10	0.006122	1	0
MYH1	4619	broad.mit.edu	37	17	10402040	10402040	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:10402040G>T	ENST00000226207.5	-	30	4178	c.4084C>A	c.(4084-4086)Cag>Aag	p.Q1362K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1362						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTGCTCTCTGTAGCTCGGCC	0.592000													41	85					4.14481e-20	6.19098e-20	0.006230	1	0
GTF3C3	9330	broad.mit.edu	37	2	197640813	197640813	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:197640813C>G	ENST00000263956.3	-	12	1705	c.1616G>C	c.(1615-1617)cGt>cCt	p.R539P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	539						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGAGTAGAACGATGAAGCAA	0.323000													23	51					0	0	0.016522	0	0
VPS13C	54832	broad.mit.edu	37	15	62167104	62167104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr15:62167104C>A	ENST00000261517.5	-	77	10458	c.10385G>T	c.(10384-10386)gGa>gTa	p.G3462V	VPS13C_ENST00000249837.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3462V|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3419V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3462					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCTCACTCCAATCACTAA	0.303000													13	18					1.96292e-10	2.45106e-10	0.010504	1	0
CYP2D7	1564	broad.mit.edu	37	22	42538867	42538867	+	RNA	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:42538867G>A	ENST00000424775.1	-	0	443				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GGCCCATAGCGCGACAGGAAC	0.687000													10	19					0	0	0.016723	0	0
GADL1	339896	broad.mit.edu	37	3	30875411	30875411	+	Silent	SNP	G	G	T	rs139652704	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:30875411G>T	ENST00000454381.3	-	11	1030	c.984C>A	c.(982-984)gcC>gcA	p.A328A	GADL1_ENST00000282538.5_Silent_p.A328A			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	328					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTGGGTTCCAGGCCACAGAGT	0.448000													15	19					3.52763e-06	3.92699e-06	0.004990	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88874652	88874652	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr2:88874652G>A	ENST00000303236.3	-	13	2650	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	EIF2AK3_ENST00000419748.1_Silent_p.H632H|EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	783	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTTCAAAGGAGTGCCCCTCAT	0.453000													109	204					0	0	0.014410	0	0
TRIM9	114088	broad.mit.edu	37	14	51464789	51464789	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:51464789G>A	ENST00000298355.3	-	7	2703	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	TRIM9_ENST00000338969.5_Silent_p.L524L|TRIM9_ENST00000360392.4_Silent_p.L528L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	528	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGGAGGACCAGGGTCTTGCTG	0.552000													13	42					0	0	0.016723	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000164	52000164	+	Missense_Mutation	SNP	G	G	T	rs145034575		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:52000164G>T	ENST00000291707.3	-	7	1624	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.D405E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	523					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577000													27	34					3.65163e-15	5.09932e-15	0.006320	1	0
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512000													32	39					0	0	0.013726	0	0
ACOX2	8309	broad.mit.edu	37	3	58520802	58520802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:58520802C>T	ENST00000302819.5	-	2	323	c.32G>A	c.(31-33)gGg>gAg	p.G11E	ACOX2_ENST00000459701.2_Missense_Mutation_p.G11E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	11					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCAGGTATCCCCCAATGACAC	0.572000													61	106					0	0	0.014410	0	0
DCX	1641	broad.mit.edu	37	X	110653366	110653366	+	Silent	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chrX:110653366C>G	ENST00000338081.3	-	2	675	c.504G>C	c.(502-504)ctG>ctC	p.L168L	DCX_ENST00000488120.1_Silent_p.L87L|DCX_ENST00000371993.2_Silent_p.L87L|DCX_ENST00000356915.2_Silent_p.L87L|DCX_ENST00000356220.3_Silent_p.L87L|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	168	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGATCGCGTCAGGTCAGCCA	0.527000													51	27					0	0	0.014410	0	0
PIK3CA	5290	broad.mit.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K.		G -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCTTGGCTCTGGAAT	0.378000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	43					0	0	0.007413	0	0
TAF4B	6875	broad.mit.edu	37	18	23873440	23873440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr18:23873440C>T	ENST00000269142.5	+	9	2775	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593*|TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	593					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTCACTTCAAGCATCTCC	0.284000													10	14					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237838057	237838057	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:237838057C>A	ENST00000366574.2	+	60	9058	c.8741C>A	c.(8740-8742)aCg>aAg	p.T2914K	RYR2_ENST00000360064.6_Missense_Mutation_p.T2912K|RYR2_ENST00000542537.1_Missense_Mutation_p.T2898K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2914	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTGGACACGCCTTCTATT	0.408000													5	16					0.00116845	0.00122557	0.001168	1	0
ASPHD2	57168	broad.mit.edu	37	22	26838460	26838460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:26838460G>C	ENST00000215906.5	+	3	1360	c.922G>C	c.(922-924)Ggg>Cgg	p.G308R		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	308					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCTGGTGGTGGGGGGAGAGCC	0.552000													51	140					0	0	0.014410	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782348	22782348	+	RNA	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:22782348A>T	ENST00000390300.2	+	0	351																											CTATTACTGTATGATTTGGCC	0.453000													47	94					0	0	0.014410	0	0
TMEM79	84283	broad.mit.edu	37	1	156261302	156261302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:156261302delG	ENST00000405535.2	+	4	1269	c.1098delG	c.(1096-1098)gafs	p.E366fs	TMEM79_ENST00000295694.5_Frame_Shift_Del_p.E366fs|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Frame_Shift_Del_p.A128fs|C1orf85_ENST00000472870.1_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGAGCCGGAGCGCATGCTCA	0.672													52	142	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33614378	33614378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:33614378delC	ENST00000504830.1	-	16	2827	c.2492delG	c.(2491-2493)gcfs	p.G831fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G746fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	831	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCAGTGGCCGTACTGCCA	0.502										HNSCC(64;0.19)			10	22	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													9	30	---	---	---	---					
ARID3C	138715	broad.mit.edu	37	9	34622436	34622436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:34622436delG	ENST00000378909.2	-	5	1048	c.956delC	c.(955-957)cafs	p.P319fs		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	319	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCTCTTCTCTGGGGGCTCCTC	0.607													21	39	---	---	---	---					
OR13F1	138805	broad.mit.edu	37	9	107267065	107267066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:107267065_107267066insA	ENST00000334726.2	+	1	611_612	c.522_523insA	c.(520-525)atatcafs	p.S175fs		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGCATCATCAATCATTTCAC	0.480													35	105	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47598968	47598971	+	Frame_Shift_Del	DEL	ATGA	ATGA	-	rs149725159		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:47598968_47598971delATGA	ENST00000533290.1	-	1	1370_1373	c.656_659delTCAT	c.(655-660)acfs	p.II219fs	KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.II194fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.II243fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.II210fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.II194fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	194	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTACCCGAGATGATATCTGTGAG	0.500													25	76	---	---	---	---					
VPS11	55823	broad.mit.edu	37	11	118949031	118949033	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:118949031_118949033delAGA	ENST00000300793.6	+	12	1949_1951	c.1907_1909delAGA	c.(1906-1911)gag>g	p.EK636del	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	637				AH -> VI (in Ref. 2; BAA95163).	protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGGCCCACGAGAAGGATCCACA	0.562													37	225	---	---	---	---					
CD27	939	broad.mit.edu	37	12	6559460	6559466	+	Frame_Shift_Del	DEL	TCGGTCG	TCGGTCG	-	rs150578547	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6559460_6559466delTCGGTCG	ENST00000266557.3	+	3	619_625	c.390_396delTCGGTCG	c.(388-396)gcfs	p.ARS130fs	CD27-AS1_ENST00000399492.2_RNA|CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	130					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.R131W(1)|p.S132S(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGCTGACCGCTCGGTCGTCTCAGGCCC	0.585													17	56	---	---	---	---					
DPPA3	359787	broad.mit.edu	37	12	7864234	7864234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:7864234delC	ENST00000345088.2	+	1	185	c.68delC	c.(67-69)tcfs	p.S23fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	23						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468													13	19	---	---	---	---					
GTF2H3	2967	broad.mit.edu	37	12	124132650	124132650	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:124132650delA	ENST00000543341.2	+	4	372	c.341delA	c.(340-342)ggfs	p.E114fs	GTF2H3_ENST00000228955.7_Frame_Shift_Del_p.E73fs	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	114					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATTGTTGAAGAGATTAAAGAT	0.348								Nucleotide excision repair (NER)					25	45	---	---	---	---					
HAGHL	84264	broad.mit.edu	37	16	778954	778955	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:778954_778955insG	ENST00000341413.4	+	7	940_941	c.659_660insG	c.(658-660)gggfs	p.G220fs	HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000389703.3_Intron			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGGGGTGGGGGGGGCTC	0.668													5	4	---	---	---	---					
CPNE2	221184	broad.mit.edu	37	16	57144698	57144698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:57144698delC	ENST00000535318.2	+	3	405	c.44delC	c.(43-45)gcfs	p.A15fs	CPNE2_ENST00000290776.8_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	15	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCGGGGGCAGCCCCCATGGGC	0.642													16	57	---	---	---	---					
AC015849.16	0	broad.mit.edu	37	17	34236020	34236034	+	RNA	DEL	GCTGTAGTCATCGGG	GCTGTAGTCATCGGG	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:34236020_34236034delGCTGTAGTCATCGGG	ENST00000587132.1	-	0	1993_2007																											TGGAGGAGGAGCTGTAGTCATCGGGGCTGTAGAAG	0.484													9	53	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17056421	17056428	+	Frame_Shift_Del	DEL	TCTCCTCA	TCTCCTCA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:17056421_17056428delTCTCCTCA	ENST00000443236.1	-	22	2896_2903	c.2865_2872delTGAGGAGA	c.(2863-2874)ccatfs	p.PEEN955fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	908						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCGGCGTGATTCTCCTCAGGGTGTTTGC	0.572													27	64	---	---	---	---					
ZNF45	7596	broad.mit.edu	37	19	44419353	44419355	+	Splice_Site	DEL	CTA	CTA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:44419353_44419355delCTA	ENST00000269973.5	-	10	1326		c.e10-1		RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Splice_Site	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTTGGCTCCTAAAAGGATAAA	0.414													10	8	---	---	---	---					
CDC45	8318	broad.mit.edu	37	22	19504093	19504093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:19504093delC	ENST00000407835.1	+	17	1740	c.1484delC	c.(1483-1485)gcfs	p.A495fs	CDC45_ENST00000263201.1_Frame_Shift_Del_p.A495fs|CDC45_ENST00000404724.3_Frame_Shift_Del_p.A449fs|CDC45_ENST00000437685.2_Frame_Shift_Del_p.A527fs			O75419	CDC45_HUMAN	cell division cycle 45	495					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGATGGCTGCCCCCCTGAGC	0.627													25	59	---	---	---	---					
SHANK3	85358	broad.mit.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctfs	p.L1210fs	SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1240										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721													4	3	---	---	---	---					
TMEM79	84283	broad.mit.edu	37	1	156261302	156261302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr1:156261302delG	ENST00000405535.2	+	4	1269	c.1098delG	c.(1096-1098)gafs	p.E366fs	TMEM79_ENST00000357501.2_Frame_Shift_Del_p.A128fs|TMEM79_ENST00000295694.5_Frame_Shift_Del_p.E366fs|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGAGCCGGAGCGCATGCTCA	0.672													52	142	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33614378	33614378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr5:33614378delC	ENST00000504830.1	-	16	2827	c.2492delG	c.(2491-2493)gcfs	p.G831fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G746fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	831	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCAGTGGCCGTACTGCCA	0.502										HNSCC(64;0.19)			10	22	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr6:16327907_16327909delTGA	ENST00000244769.4	-	8	1569_1571	c.633_635delTCA	c.(631-636)cag>ca	p.HQ211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.670													5	10	---	---	---	---					
ARID3C	138715	broad.mit.edu	37	9	34622436	34622436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:34622436delG	ENST00000378909.2	-	5	1048	c.956delC	c.(955-957)cafs	p.P319fs		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	319	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCTCTTCTCTGGGGGCTCCTC	0.607													21	39	---	---	---	---					
OR13F1	138805	broad.mit.edu	37	9	107267065	107267066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr9:107267065_107267066insA	ENST00000334726.2	+	1	611_612	c.522_523insA	c.(520-525)atatcafs	p.S175fs		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGCATCATCAATCATTTCAC	0.480													35	105	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													3	5	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47598968	47598971	+	Frame_Shift_Del	DEL	ATGA	ATGA	-	rs149725159		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:47598968_47598971delATGA	ENST00000533290.1	-	1	1370_1373	c.656_659delTCAT	c.(655-660)acfs	p.II219fs	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.II194fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.II243fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.II210fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.II194fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	194	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTACCCGAGATGATATCTGTGAG	0.500													25	76	---	---	---	---					
VPS11	55823	broad.mit.edu	37	11	118949031	118949033	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr11:118949031_118949033delAGA	ENST00000300793.6	+	12	1949_1951	c.1907_1909delAGA	c.(1906-1911)gag>g	p.EK636del	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	637				AH -> VI (in Ref. 2; BAA95163).	protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGGCCCACGAGAAGGATCCACA	0.562													37	225	---	---	---	---					
CD27	939	broad.mit.edu	37	12	6559460	6559466	+	Frame_Shift_Del	DEL	TCGGTCG	TCGGTCG	-	rs150578547	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:6559460_6559466delTCGGTCG	ENST00000266557.3	+	3	619_625	c.390_396delTCGGTCG	c.(388-396)gcfs	p.ARS130fs	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	130					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	p.R131W(1)|p.S132S(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGCTGACCGCTCGGTCGTCTCAGGCCC	0.585													17	56	---	---	---	---					
DPPA3	359787	broad.mit.edu	37	12	7864234	7864234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:7864234delC	ENST00000345088.2	+	1	185	c.68delC	c.(67-69)tcfs	p.S23fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	23						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468													13	19	---	---	---	---					
GTF2H3	2967	broad.mit.edu	37	12	124132650	124132650	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr12:124132650delA	ENST00000543341.2	+	4	372	c.341delA	c.(340-342)ggfs	p.E114fs	GTF2H3_ENST00000228955.7_Frame_Shift_Del_p.E73fs	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	114					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATTGTTGAAGAGATTAAAGAT	0.348								Nucleotide excision repair (NER)					25	45	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-	rs28718623		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)cag>ca	p.QQ126del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	126	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.700													6	2	---	---	---	---					
CPNE2	221184	broad.mit.edu	37	16	57144698	57144698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr16:57144698delC	ENST00000535318.2	+	3	405	c.44delC	c.(43-45)gcfs	p.A15fs	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.A15fs			Q96FN4	CPNE2_HUMAN	copine II	15	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCGGGGGCAGCCCCCATGGGC	0.642													16	57	---	---	---	---					
AC015849.16	0	broad.mit.edu	37	17	34236020	34236034	+	RNA	DEL	GCTGTAGTCATCGGG	GCTGTAGTCATCGGG	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr17:34236020_34236034delGCTGTAGTCATCGGG	ENST00000587132.1	-	0	1993_2007																											TGGAGGAGGAGCTGTAGTCATCGGGGCTGTAGAAG	0.484													9	53	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17056421	17056428	+	Frame_Shift_Del	DEL	TCTCCTCA	TCTCCTCA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:17056421_17056428delTCTCCTCA	ENST00000443236.1	-	22	2896_2903	c.2865_2872delTGAGGAGA	c.(2863-2874)ccatfs	p.PEEN955fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	908						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCGGCGTGATTCTCCTCAGGGTGTTTGC	0.572													27	64	---	---	---	---					
ZNF45	7596	broad.mit.edu	37	19	44419353	44419355	+	Splice_Site	DEL	CTA	CTA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr19:44419353_44419355delCTA	ENST00000269973.5	-	10	1326		c.e10-1		ZNF45_ENST00000589703.1_Splice_Site|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTTGGCTCCTAAAAGGATAAA	0.414													10	8	---	---	---	---					
CDC45	8318	broad.mit.edu	37	22	19504093	19504093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:19504093delC	ENST00000407835.1	+	17	1740	c.1484delC	c.(1483-1485)gcfs	p.A495fs	CDC45_ENST00000437685.2_Frame_Shift_Del_p.A527fs|CDC45_ENST00000404724.3_Frame_Shift_Del_p.A449fs|CDC45_ENST00000263201.1_Frame_Shift_Del_p.A495fs			O75419	CDC45_HUMAN	cell division cycle 45	495					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGATGGCTGCCCCCCTGAGC	0.627													25	59	---	---	---	---					
SHANK3	85358	broad.mit.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750da72e-cabd-4b97-8160-8c4e39272b8b	3789df7b-2376-43c0-b181-5cd5ec3c5328	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctfs	p.L1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1240										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721													4	3	---	---	---	---