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
IFNG	3458	broad.mit.edu	37	12	68549134	68549134	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:68549134T>A	ENST00000229135.3	-	4	631	c.500A>T	c.(499-501)tAa>tTa	p.*167L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	0					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.*167L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GGACAACCATTACTGGGATGC	0.363000													11	43					0	0	0.069234	0	0
VWF	7450	broad.mit.edu	37	12	6059022	6059022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:6059022G>A	ENST00000261405.5	-	51	8437	c.8183C>T	c.(8182-8184)aCt>aTt	p.T2728I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2728	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.T2728I(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCCTGGCAGTGATGTCGTT	0.537000													5	146					0	0	0.021553	0	0
RSPO4	343637	broad.mit.edu	37	20	947922	947922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:947922C>T	ENST00000217260.4	-	3	400	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RSPO4_ENST00000400634.2_Missense_Mutation_p.D102N	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	102					Wnt receptor signaling pathway	extracellular region	heparin binding	p.D102N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGCAGAAGTCCTGGCTGAAG	0.602000													80	190					0	0	0.139131	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310219	25310219	+	RNA	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:25310219A>T	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							GGAAAAGCTGAACAAAATGAG	0.473000													33	164					0	0	0.069456	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88876190	88876190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:88876190C>G	ENST00000303236.3	-	12	2219	c.1918G>C	c.(1918-1920)Gtt>Ctt	p.V640L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V489L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	640	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	p.V640L(2)		ovary(3)	3						AAGGCTTTAACTTCTCGCATT	0.393000													32	82					0	0	0.064281	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967041	41967041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:41967041G>T	ENST00000298919.7	+	10	2068	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E820D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E562D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	820							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.E820D(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGATCAAGAGAAGGCAGTCA	0.488000													278	624					9.33756e-138	1.29185e-137	0.139131	1	0
SULF1	23213	broad.mit.edu	37	8	70539460	70539460	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70539460C>A	ENST00000260128.4	+	16	2583	c.1866C>A	c.(1864-1866)ccC>ccA	p.P622P	SULF1_ENST00000402687.4_Silent_p.P622P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.P622P|SULF1_ENST00000458141.2_Silent_p.P622P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.P622P(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATTCTTCCCAATGACTCTA	0.378000													20	46					3.8784e-16	4.40377e-16	0.062417	1	0
ZNF687	57592	broad.mit.edu	37	1	151259952	151259952	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:151259952G>A	ENST00000368879.2	+	2	1283	c.1185G>A	c.(1183-1185)agG>agA	p.R395R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.R395R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGTACAAGGCTGAAAGGCA	0.597000													28	48					0	0	0.144211	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	56					0	0	0.069234	0	0
DCDC1	341019	broad.mit.edu	37	11	30953319	30953319	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:30953319G>T	ENST00000597505.1	-	20	2895	c.2897_splice	c.e20+1	p.Q966_splice	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Splice_Site_p.Q45_splice			P59894	DCDC1_HUMAN	doublecortin domain containing 1	201					intracellular signal transduction			p.Q45K(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTCTTACTGCGTTTTCCGT	0.363000													38	37					8.20599e-20	9.50694e-20	0.124865	1	0
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport	cytoplasm|nucleus	binding	p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363000													4	30					0	0	0.014758	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642213	111642213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:111642213C>A	ENST00000502935.1	-	10	1137	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A340S|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A297S|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A226S			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.A297S(2)|p.A340S(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGCTCACAGCATAGCTGGCC	0.577000													41	272					4.45467e-35	5.51991e-35	0.124865	1	0
ACTN2	88	broad.mit.edu	37	1	236925779	236925779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:236925779G>A	ENST00000366578.4	+	21	2711	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E849K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E343K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	849					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.E849K(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGCGGAGGAGCTGCGTCG	0.537000													55	90					0	0	0.139131	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682886	53682886	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:53682886T>C	ENST00000262135.4	-	16	2387	c.2294A>G	c.(2293-2295)cAt>cGt	p.H765R	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H765R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	765					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.H765R(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGACTGCATATGCTCTGGCCC	0.353000													100	144					0	0	0.139131	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131658	66131658	+	RNA	SNP	C	C	A	rs7210736	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:66131658C>A	ENST00000590019.1	-	0	298																											AAGTCATCATCCAGCTTGGTC	0.587000													5	87					0.00198382	0.00204111	0.029380	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949602	17949602	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:17949602A>T	ENST00000361221.3	+	12	1291	c.1132A>T	c.(1132-1134)Atc>Ttc	p.I378F	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I136F|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I378F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	378	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.I378F(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CATGTTCCAGATCGCCCTGTC	0.622000													23	51					0	0	0.134883	0	0
DPYS	1807	broad.mit.edu	37	8	105459557	105459557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:105459557C>A	ENST00000351513.2	-	3	730	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	200					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.A200S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCTCTGCAATTAAGTCT	0.453000													52	175					2.5401e-28	3.04171e-28	0.139131	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259805	90259805	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:90259805G>T	ENST00000471857.1	+	0	213																											CAGCTCCTGGGGCTCCTGCTG	0.542000													81	302					3.3819e-59	4.44166e-59	0.139131	1	0
GGNBP2	79893	broad.mit.edu	37	17	34943642	34943642	+	Silent	SNP	C	C	T	rs142994076	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:34943642C>T	ENST00000304718.4	+	13	2173	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	619					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.S619S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTCCCGATTCCGGAAAAGGTG	0.478000													8	184					0	0	0.069234	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868922	51868922	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:51868922T>A	ENST00000453097.2	+	16	2321	c.2104T>A	c.(2104-2106)Ttt>Att	p.F702I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.F729I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.F649I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.F649I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	702					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F702I(4)|p.F649I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTATTCTCTTTTTCACCAC	0.483000													38	298					0	0	0.064281	0	0
OR2T3	343173	broad.mit.edu	37	1	248636980	248636980	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248636980T>G	ENST00000359594.2	+	1	354	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110R(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTTCTACCTGACCCTGGCT	0.542000													171	544					0	0	0.139131	0	0
DACT1	51339	broad.mit.edu	37	14	59113521	59113521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:59113521C>A	ENST00000395153.3	+	4	2216	c.2069C>A	c.(2068-2070)tCg>tAg	p.S690*	DACT1_ENST00000541264.2_Nonsense_Mutation_p.S446*|DACT1_ENST00000335867.4_Nonsense_Mutation_p.S727*|DACT1_ENST00000556859.1_Nonsense_Mutation_p.S446*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.S446*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	727					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S727*(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCGAGTACTCGGCCGAGTGC	0.662000													38	43					2.87052e-16	3.28553e-16	0.080422	1	0
RYR2	6262	broad.mit.edu	37	1	237880668	237880668	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:237880668G>A	ENST00000366574.2	+	72	10811	c.10494_splice	c.e72+1	p.L3498_splice	RYR2_ENST00000542537.1_Splice_Site_p.L3482_splice|RYR2_ENST00000360064.6_Splice_Site_p.L3496_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3498					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L3496L(2)		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)			GATTTAGCCTGGTAAGTCTCC	0.478000													33	71					0	0	0.086207	0	0
CKAP4	10970	broad.mit.edu	37	12	106632981	106632981	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:106632981T>C	ENST00000378026.4	-	2	1766	c.1630A>G	c.(1630-1632)Agc>Ggc	p.S544G		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	544						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S544G(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCACTTGGCTGACTGAGGCT	0.532000													41	78					0	0	0.139131	0	0
PTPRK	5796	broad.mit.edu	37	6	128404945	128404945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:128404945G>C	ENST00000368227.3	-	9	1856	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	PTPRK_ENST00000532331.1_Missense_Mutation_p.S497C|PTPRK_ENST00000368213.5_Missense_Mutation_p.S497C|PTPRK_ENST00000368207.3_Missense_Mutation_p.S497C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.S497C|PTPRK_ENST00000368210.3_Missense_Mutation_p.S497C|PTPRK_ENST00000368226.4_Missense_Mutation_p.S497C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	497	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S497C(2)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCTTGAAGAGATTTTACTGG	0.338000													37	136					0	0	0.111260	0	0
GUSBP1	728411	broad.mit.edu	37	5	21491446	21491446	+	RNA	SNP	G	G	T	rs150396680	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:21491446G>T	ENST00000607545.1	+	0	179					NR_027026.1																						TGAATTACCAGATCTCCGTCA	0.532000													5	60					0.00116845	0.00121093	0.021553	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953812	161953812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:161953812G>T	ENST00000294794.3	-	8	2329	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.L637M|OLFML2B_ENST00000367938.1_Missense_Mutation_p.L119M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	636	Olfactomedin-like.							p.L636M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATCGTCCAGGGCCGGGTAG	0.632000													41	114					9.57592e-29	1.15153e-28	0.139131	1	0
ZNF438	220929	broad.mit.edu	37	10	31137569	31137569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:31137569C>T	ENST00000538351.1	-	7	2372	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	ZNF438_ENST00000444692.2_Missense_Mutation_p.V579M|ZNF438_ENST00000361310.3_Missense_Mutation_p.V589M|ZNF438_ENST00000375311.1_Missense_Mutation_p.V153M|ZNF438_ENST00000331737.6_Missense_Mutation_p.V579M|ZNF438_ENST00000442986.1_Missense_Mutation_p.V589M|ZNF438_ENST00000436087.2_Missense_Mutation_p.V589M|ZNF438_ENST00000413025.1_Missense_Mutation_p.V589M|ZNF438_ENST00000452305.1_Missense_Mutation_p.V579M	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V589M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACCCTATGCACTTCTTTCAGA	0.488000													158	96					0	0	0.139131	0	0
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:57829576C>T	ENST00000371030.2	+	5	4812	c.4812C>T	c.(4810-4812)ccC>ccT	p.P1604P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604						intracellular	nucleic acid binding|zinc ion binding	p.P1604P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACTGTCCCCTGCCCCTCTT	0.493000													64	222					0	0	0.139131	0	0
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	C	rs147799875		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:190067891G>C	ENST00000367462.3	-	8	1789	c.1558C>G	c.(1558-1560)Cgc>Ggc	p.R520G	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R418G	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		520						extracellular region		p.R520G(2)|p.R520S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTATTGAGGCGCATGTCATTG	0.453000													148	272					0	0	0.139131	0	0
CSMD3	114788	broad.mit.edu	37	8	113254006	113254006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:113254006T>A	ENST00000297405.5	-	66	10655	c.10411A>T	c.(10411-10413)Aaa>Taa	p.K3471*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K3431*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K3302*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K3401*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3471						integral to membrane|plasma membrane		p.K3471*(2)|p.K3431*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAATATTTTAGAACCAGCT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			156	130					0	0	0.139131	0	0
CPT1B	1375	broad.mit.edu	37	22	51014719	51014719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:51014719G>A	ENST00000360719.2	-	6	744	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.R203C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R203C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R169C|CPT1B_ENST00000405237.3_Missense_Mutation_p.R203C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R203C|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	203					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R203C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AACTCCATGCGGTAATATTCC	0.522000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763566	77763566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:77763566G>T	ENST00000521891.2	+	10	4857	c.4409G>T	c.(4408-4410)tGg>tTg	p.W1470L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1444L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1425L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1425L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1470L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAACTGTGGGCAGAGAGC	0.502000										HNSCC(33;0.089)			94	288					1.42366e-38	1.77957e-38	0.139131	1	0
RGS6	9628	broad.mit.edu	37	14	72945023	72945023	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:72945023C>G	ENST00000553530.1	+	12	1047	c.840C>G	c.(838-840)tcC>tcG	p.S280S	RGS6_ENST00000553525.1_Silent_p.S280S|RGS6_ENST00000355512.6_Silent_p.S280S|RGS6_ENST00000554782.1_Silent_p.S141S|RGS6_ENST00000434263.2_Silent_p.S211S|RGS6_ENST00000404301.2_Silent_p.S280S|RGS6_ENST00000407322.4_Silent_p.S280S|RGS6_ENST00000406236.4_Silent_p.S280S|RGS6_ENST00000555571.1_Silent_p.S280S|RGS6_ENST00000556437.1_Silent_p.S280S|RGS6_ENST00000343854.6_Silent_p.S280S|RGS6_ENST00000402788.2_Silent_p.S280S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	280	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.S280S(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGAAAATGTCCAAAGTGGCTG	0.318000													13	56					0	0	0.038395	0	0
CC2D2A	57545	broad.mit.edu	37	4	15569349	15569349	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:15569349A>G	ENST00000424120.1	+	26	3592	c.3338A>G	c.(3337-3339)cAt>cGt	p.H1113R	CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1064R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1113R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1113R			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1113	C2.				cell projection organization	cilium|microtubule basal body		p.H1113R(2)|p.H1064R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACAGTTTGCCATACGACTACG	0.363000													23	65					0	0	0.099896	0	0
PHF2	5253	broad.mit.edu	37	9	96416742	96416742	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:96416742C>G	ENST00000359246.4	+	7	1204	c.837C>G	c.(835-837)tcC>tcG	p.S279S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	279	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S279S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAACATCTCCCTGTATGAGC	0.602000													11	9					0	0	0.146539	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	247					0	0	0.029380	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603806	10603806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:10603806G>T	ENST00000334534.5	+	8	1186	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.A336S(2)									GGTTTTGCCAGCTTCAGAGTT	0.443000													42	69					2.01872e-29	2.43786e-29	0.139131	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169943	20169943	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:20169943G>T	ENST00000338912.5	-	0	328																		p.T110K(2)									ATACATGGCCGTGTCCTCAGA	0.517000													83	859					6.20995e-33	7.62861e-33	0.139131	1	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													12	192					0	0	0.055883	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212371	28212371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:28212371G>T	ENST00000284984.2	-	6	2129	c.1675C>A	c.(1675-1677)Cat>Aat	p.H559N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	559	Disintegrin.|TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H559N(2)|p.H559Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAGCTTCCATGAAAAGGCGTC	0.463000													8	34					7.48243e-07	8.07762e-07	0.058154	1	0
LDHC	3948	broad.mit.edu	37	11	18434300	18434300	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:18434300A>G	ENST00000541669.1	+	2	147	c.36A>G	c.(34-36)ctA>ctG	p.L12L	LDHC_ENST00000280704.4_Silent_p.L12L|LDHC_ENST00000537486.1_Silent_p.L12L|LDHC_ENST00000535809.1_Silent_p.L12L|LDHC_ENST00000544105.1_Silent_p.L12L|LDHC_ENST00000536880.1_Silent_p.L12L|LDHC_ENST00000546146.1_Silent_p.L12L			P07864	LDHC_HUMAN	lactate dehydrogenase C	12					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L12L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTGAGAAGCTAATTGAGGATG	0.393000													121	90					0	0	0.139131	0	0
OR2L8	391190	broad.mit.edu	37	1	248112482	248112482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248112482G>T	ENST00000357191.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCATTAGGAGGTGCAGAAGCA	0.438000													133	1175					1.21526e-53	1.5815e-53	0.139131	1	0
RIMS1	22999	broad.mit.edu	37	6	72960066	72960066	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:72960066C>G	ENST00000264839.7	+	13	2275	c.2275C>G	c.(2275-2277)Ctg>Gtg	p.L759V	RIMS1_ENST00000520567.1_Missense_Mutation_p.L759V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L759V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L759V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L759V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L759V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L233V|RIMS1_ENST00000348717.5_Missense_Mutation_p.L759V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L152V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L233V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L218V|RIMS1_ENST00000521978.1_Missense_Mutation_p.L759V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	759	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L759V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACACCAGCTGATTGTAAA	0.363000													31	33					0	0	0.092188	0	0
KRT79	338785	broad.mit.edu	37	12	53223860	53223860	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:53223860T>C	ENST00000330553.5	-	4	836	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	268	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.K268E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGCCCACTTTGCCATGCAGA	0.552000													31	136					0	0	0.086207	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:159163801G>C	ENST00000368125.4	+	5	819	c.662G>C	c.(661-663)aGa>aCa	p.R221T	CADM3_ENST00000368124.4_Missense_Mutation_p.R255T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000													90	145					0	0	0.139131	0	0
CILP	8483	broad.mit.edu	37	15	65499310	65499310	+	Silent	SNP	G	G	A	rs146845325		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:65499310G>A	ENST00000261883.4	-	4	400	c.234C>T	c.(232-234)cgC>cgT	p.R78R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R78R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATAGTAGAAGCGAATGGCGT	0.602000													4	47					0	0	0.021553	0	0
TICRR	90381	broad.mit.edu	37	15	90168849	90168849	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:90168849T>A	ENST00000268138.7	+	20	5413	c.5308T>A	c.(5308-5310)Ttg>Atg	p.L1770M	TICRR_ENST00000560985.1_Missense_Mutation_p.L1769M|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator									p.L1770M(2)									ACAGTTTGGGTTGAGTTCCAG	0.537000													12	26					0	0	0.132662	0	0
SERPING1	710	broad.mit.edu	37	11	57367768	57367768	+	Silent	SNP	C	C	T	rs150601964	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:57367768C>T	ENST00000403558.1	+	2	936	c.570C>T	c.(568-570)gcC>gcT	p.A190A	SERPING1_ENST00000378323.4_Silent_p.A161A|SERPING1_ENST00000378324.2_Silent_p.A104A|SERPING1_ENST00000340687.6_Silent_p.A156A|SERPING1_ENST00000278407.4_Silent_p.A156A	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A156A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TCTACCACGCCTTCTCAGCAA	0.537000													5	127					0	0	0.021553	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019010	193019010	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:193019010A>T	ENST00000342358.4	-	24	2882	c.2765T>A	c.(2764-2766)cTg>cAg	p.L922Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	922					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L922Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAATAGAGCAGTAATGCACT	0.353000													169	194					0	0	0.139131	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195622	17195622	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:17195622T>C	ENST00000377799.3	-	10	1006	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.Y296C|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Missense_Mutation_p.Y197C|TRDMT1_ENST00000351358.4_Missense_Mutation_p.Y274C|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.Y239C	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	320					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.Y320C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAGGGATTTGTAGATATTCTC	0.338000													16	52					0	0	0.055883	0	0
WNT7B	7477	broad.mit.edu	37	22	46345933	46345933	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:46345933C>A	ENST00000339464.4	-	2	539	c.165G>T	c.(163-165)cgG>cgT	p.R55R	WNT7B_ENST00000409496.3_Silent_p.R59R|WNT7B_ENST00000410058.1_Silent_p.R55R|WNT7B_ENST00000410089.1_Silent_p.R39R	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	55					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.R55R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCATCGGGCCGACTCTGGC	0.627000													15	15					3.52763e-06	3.79387e-06	0.033300	1	0
DNM1P46	196968	broad.mit.edu	37	15	100331863	100331863	+	RNA	SNP	C	C	T	rs146847301	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:100331863C>T	ENST00000341853.1	-	0	2328					NR_003260.1																						CTGACTCCCCCTGTACCCATT	0.592000													6	47					0	0	0.038147	0	0
LRRN2	10446	broad.mit.edu	37	1	204588136	204588136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:204588136G>A	ENST00000367175.1	-	1	3197	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	LRRN2_ENST00000367176.3_Missense_Mutation_p.R329C|LRRN2_ENST00000367177.3_Missense_Mutation_p.R329C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion	integral to membrane	receptor activity	p.R329C(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGAAGGCGCGGGGGTGGATG	0.607000													8	54					0	0	0.058154	0	0
CORIN	10699	broad.mit.edu	37	4	47839920	47839920	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:47839920G>A	ENST00000273857.4	-	1	46	c.47C>T	c.(46-48)gCc>gTc	p.A16V	CORIN_ENST00000502252.1_Missense_Mutation_p.A16V|CORIN_ENST00000504584.1_Missense_Mutation_p.A16V|CORIN_ENST00000505909.1_Missense_Mutation_p.A16V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	16					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.A16V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGGGGACCCGGCTCTGCGGCA	0.562000													12	235					0	0	0.146539	0	0
GEM	2669	broad.mit.edu	37	8	95265333	95265333	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:95265333T>C	ENST00000297596.2	-	3	603	c.339A>G	c.(337-339)acA>acG	p.T113T	GEM_ENST00000396194.2_Silent_p.T113T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	113					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.T113T(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTCGTTCATATGTATCTTCTA	0.403000													126	312					0	0	0.139131	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597207	18597207	+	RNA	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:18597207C>G	ENST00000546162.2	+	0	947					NR_003569.1																						CTCAGAAGAACTTGTTTCCCG	0.557000													22	165					0	0	0.144211	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060902	76060902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:76060902C>T	ENST00000335749.4	+	4	3055	c.2486C>T	c.(2485-2487)gCa>gTa	p.A829V	TNRC6C_ENST00000588061.1_Missense_Mutation_p.A832V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A832V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A832V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	832	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A829V(2)|p.A832V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGGCACAGCAGCATGGGGG	0.577000													27	54					0	0	0.144211	0	0
MUC2	4583	broad.mit.edu	37	11	1084280	1084280	+	Silent	SNP	C	C	T	rs61732127		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:1084280C>T	ENST00000441003.2	+	19	2439	c.2412C>T	c.(2410-2412)gaC>gaT	p.D804D	MUC2_ENST00000359061.5_Silent_p.D804D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	804						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGCCCCGACGGGCTGATGG	0.627000													2	1					0	0	0.115264	0	0
RAET1K	646024	broad.mit.edu	37	6	150322802	150322802	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:150322802T>C	ENST00000533735.1	-	0	74					NR_024045.1																						AGACAGTGTGTGTCTGTGGAA	0.493000													13	103					0	0	0.146539	0	0
TDRD10	126668	broad.mit.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:154516513G>T	ENST00000368482.4	+	9	1416	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TDRD10_ENST00000368480.3_Missense_Mutation_p.R193L|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	193							nucleotide binding|RNA binding	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617000													105	174					1.19107e-50	1.536e-50	0.139131	1	0
SCYL1	57410	broad.mit.edu	37	11	65305955	65305955	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:65305955G>C	ENST00000270176.5	+	18	2422	c.2345G>C	c.(2344-2346)cGg>cCg	p.R782P	SCYL1_ENST00000420247.2_Missense_Mutation_p.R765P|SCYL1_ENST00000525364.1_Missense_Mutation_p.G763R|SCYL1_ENST00000527630.1_Missense_Mutation_p.R681P|SCYL1_ENST00000279270.6_Missense_Mutation_p.G764R|SCYL1_ENST00000527009.1_Missense_Mutation_p.R639P|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000533862.1_Missense_Mutation_p.G770R|SCYL1_ENST00000534462.1_3'UTR	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	782					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.R782P(1)		ovary(1)|skin(1)	2						CGCGAGGAGCGGCGGCGGGAG	0.701000													2	0					0	0	0.115264	0	0
PGR	5241	broad.mit.edu	37	11	100998942	100998942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:100998942G>T	ENST00000325455.5	-	1	2313	c.860C>A	c.(859-861)gCg>gAg	p.A287E	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A287E	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	287	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.A287E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGCCATCGGCGCGTCCTGCTC	0.697000													9	1					6.40141e-05	6.70736e-05	0.080935	1	0
LOC101928517	101928517	broad.mit.edu	37	19	51670842	51670842	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:51670842C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA														p.L43L(1)									TCTTTGTGCACTGTTCGGTCT	0.577000													4	2					0	0	0.009096	0	0
TAF1L	138474	broad.mit.edu	37	9	32631306	32631306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:32631306G>T	ENST00000242310.4	-	1	4361	c.4272C>A	c.(4270-4272)ttC>ttA	p.F1424L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1424	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.F1424L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGGAGTGTGGAAAGGGTGTG	0.473000													392	330					5.51998e-205	7.71174e-205	0.139131	1	0
STARD7	56910	broad.mit.edu	37	2	96861114	96861114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:96861114C>A	ENST00000337288.5	-	2	847	c.464G>T	c.(463-465)cGc>cTc	p.R155L	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	155	START.					mitochondrion		p.R80L(1)|p.R155L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TGTAATTGGGCGCCGCCACAG	0.493000													6	23					0.00448238	0.00459525	0.047766	1	0
CHRM2	1129	broad.mit.edu	37	7	136699878	136699878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:136699878G>C	ENST00000445907.2	+	3	794	c.266G>C	c.(265-267)tGg>tCg	p.W89S	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.W89S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.W89S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.W89S|CHRM2_ENST00000401861.1_Missense_Mutation_p.W89S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	89					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.W89S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGGTTACTGGCCTTTGGGA	0.463000													153	367					0	0	0.139131	0	0
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:39869182G>C	ENST00000538976.1	+	24	3095	c.2913G>C	c.(2911-2913)cgG>cgC	p.R971R	DAAM2_ENST00000398904.2_Silent_p.R972R|DAAM2_ENST00000274867.4_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607000													39	90					0	0	0.139131	0	0
FAM154B	283726	broad.mit.edu	37	15	82574915	82574915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:82574915G>T	ENST00000339465.5	+	3	778	c.709G>T	c.(709-711)Gag>Tag	p.E237*	FAM154B_ENST00000427381.2_Nonsense_Mutation_p.E222*|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	237								p.E237*(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAAGTACCAGAGTATGTGCC	0.473000													31	234					2.20262e-25	2.594e-25	0.054565	1	0
GABRQ	55879	broad.mit.edu	37	X	151821395	151821395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:151821395A>T	ENST00000370306.2	+	9	1570	c.1550A>T	c.(1549-1551)aAg>aTg	p.K517M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.K517M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTGGGAAGCCCATGCTT	0.547000													91	108					0	0	0.139131	0	0
FKBP15	23307	broad.mit.edu	37	9	115965313	115965313	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:115965313A>G	ENST00000238256.3	-	5	444	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	109	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding	p.Y134Y(2)|p.Y109Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAGAATCCTATACTGTAGAC	0.328000													41	30					0	0	0.139131	0	0
HARS	3035	broad.mit.edu	37	5	140070879	140070879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:140070879C>A	ENST00000504156.1	-	1	730	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HARS_ENST00000448240.1_5'UTR|HARS_ENST00000431330.2_Missense_Mutation_p.R4L|HARS_ENST00000457527.2_Missense_Mutation_p.R4L|HARS_ENST00000307633.3_Missense_Mutation_p.R4L|HARS_ENST00000415192.2_Missense_Mutation_p.R4L|HARS_ENST00000438307.2_Missense_Mutation_p.R4L	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	4	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.R4L(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCGCCGCACGCTCTGCCAT	0.652000													9	9					4.68919e-08	5.14007e-08	0.069234	1	0
TRAK1	22906	broad.mit.edu	37	3	42244272	42244272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:42244272C>A	ENST00000449246.1	+	12	1851	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGCCCCTCTCTGTCCTCCTG	0.647000													5	10					0.00116845	0.00121093	0.021553	1	0
NEK8	284086	broad.mit.edu	37	17	27065114	27065114	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:27065114C>T	ENST00000268766.6	+	8	1107	c.1071_splice	c.e8-1	p.A358_splice	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	358						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A369V(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCCTGCAGGCCCCACCCCTA	0.697000													9	4					0	0	0.105934	0	0
BAGE2	85319	broad.mit.edu	37	21	11038767	11038767	+	RNA	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:11038767A>C	ENST00000470054.1	-	0	1436									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTCTCTTAGTAATAGCTG	0.378000													40	301					0	0	0.139131	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899948	128899948	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:128899948C>A	ENST00000435159.2	+	2	757	c.757C>A	c.(757-759)Cgt>Agt	p.R253S		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	253						integral to membrane		p.R253S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAACGCCATCCGTCCAGGAAA	0.662000													3	2					0.115264	0.11567	0.115264	1	0
THSD7A	221981	broad.mit.edu	37	7	11633039	11633039	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:11633039G>T	ENST00000423059.3	-	3	1364	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	371	TSP type-1 3.					integral to membrane		p.P371P(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTTGAGCAGGGGCTCCACT	0.517000										HNSCC(18;0.044)			44	114					2.37825e-27	2.82417e-27	0.117977	1	0
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:50659489G>T	ENST00000252677.3	+	2	1061	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R354L(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGTGTCCCCCGGCCCTCCTGT	0.463000													121	41					3.8324e-49	4.91998e-49	0.139131	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26204930	26204930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:26204930C>A	ENST00000360441.4	+	1	73	c.58C>A	c.(58-60)Cgt>Agt	p.R20S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R20S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TAAGCGTCACCGTAAGGTCCT	0.547000													39	159					3.54909e-21	4.12853e-21	0.124865	1	0
KIF21A	55605	broad.mit.edu	37	12	39724056	39724056	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:39724056T>G	ENST00000361961.3	-	23	3708	c.3289A>C	c.(3289-3291)Agc>Cgc	p.S1097R	KIF21A_ENST00000544797.2_Intron|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1074R|KIF21A_ENST00000395670.3_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1110R	NM_001173464.1|NM_017641.3	NP_001166935.1|NP_060111.2	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1110					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1097R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATGGTACGCTATCTAGATCT	0.313000													9	196					0	0	0.093190	0	0
COL6A6	131873	broad.mit.edu	37	3	130292827	130292827	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:130292827T>A	ENST00000358511.6	+	7	3036	c.3005T>A	c.(3004-3006)gTt>gAt	p.V1002D	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1002D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1002	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.V1002D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGATCTTGTTTTCCTTATG	0.358000													51	59					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179600341	179600341	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:179600341T>A	ENST00000589042.1	-	50	15056	c.14832A>T	c.(14830-14832)acA>acT	p.T4944T	TTN_ENST00000342992.6_Silent_p.T3700T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.T4627T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4627	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T3700T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCAAGTGTTGCTATTT	0.433000													30	30					0	0	0.144211	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495340	64495340	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:64495340T>C	ENST00000303052.7	-	10	1471	c.1048A>G	c.(1048-1050)Act>Gct	p.T350A	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T350A|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T350A|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T332A	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	350					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T350A(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTTCTCGAGTTATTGCAGAT	0.453000													115	61					0	0	0.139131	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149140	73149140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:73149140C>T	ENST00000286657.4	-	22	3367	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.G1111S(2)		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)			GCATTTGGACCTCCCACTGAA	0.463000													46	246					0	0	0.139131	0	0
NELL1	4745	broad.mit.edu	37	11	20968951	20968951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:20968951C>A	ENST00000298925.5	+	12	1378	c.1225C>A	c.(1225-1227)Cct>Act	p.P409T	NELL1_ENST00000357134.5_Missense_Mutation_p.P381T|NELL1_ENST00000325319.5_Missense_Mutation_p.P324T|NELL1_ENST00000532434.1_Missense_Mutation_p.P381T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	381	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.P381T(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCACATTCTTCCTGAGAATCA	0.473000													257	194					2.20191e-112	3.01704e-112	0.139131	1	0
HELZ	9931	broad.mit.edu	37	17	65103287	65103287	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:65103287C>T	ENST00000358691.5	-	31	5405	c.5239G>A	c.(5239-5241)Gag>Aag	p.E1747K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1748K	NM_014877.3	NP_055692.2			helicase with zinc finger									p.E1747K(2)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACATTTACCTCTTCTAAGCTA	0.328000													107	138					0	0	0.139131	0	0
TMC8	147138	broad.mit.edu	37	17	76130576	76130576	+	Silent	SNP	C	C	T	rs149203228	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:76130576C>T	ENST00000318430.5	+	8	1292	c.918C>T	c.(916-918)aaC>aaT	p.N306N	TMC8_ENST00000589691.1_Silent_p.N83N	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	306			N -> I (in dbSNP:rs7208422).			endoplasmic reticulum membrane|integral to membrane		p.N306N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACGTACTCAACGGGCTCCTGG	0.612000													3	11					0	0	0.009096	0	0
MKRN3	7681	broad.mit.edu	37	15	23810997	23810997	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:23810997C>T	ENST00000314520.3	+	1	544	c.68C>T	c.(67-69)gCa>gTa	p.A23V	MKRN3_ENST00000568252.1_Missense_Mutation_p.A23V|MKRN3_ENST00000564592.1_Missense_Mutation_p.A23V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	23						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A23V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTGAGGCAGCAAGGGAGGGT	0.667000													9	11					0	0	0.058154	0	0
IRX1	79192	broad.mit.edu	37	5	3599727	3599727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:3599727A>T	ENST00000302006.3	+	2	717	c.665A>T	c.(664-666)gAg>gTg	p.E222V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E222V(2)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACGACGAGGAGATCGACCTG	0.632000													5	26					0	0	0.014758	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729639	15729639	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:15729639C>T	ENST00000396368.3	-	3	911	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIAA0430_ENST00000548025.1_Silent_p.G235G|KIAA0430_ENST00000344181.3_Silent_p.G57G|KIAA0430_ENST00000551742.1_Silent_p.G235G|KIAA0430_ENST00000540441.2_Silent_p.G235G|KIAA0430_ENST00000602337.1_Silent_p.G235G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	234						peroxisome	nucleotide binding|RNA binding	p.G235G(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTCCAAATGCCCTGGAGCCC	0.522000													30	58					0	0	0.050027	0	0
RIT1	6016	broad.mit.edu	37	1	155874285	155874285	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:155874285A>C	ENST00000368323.3	-	5	450	c.246T>G	c.(244-246)ttT>ttG	p.F82L	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.F99L|RIT1_ENST00000539040.1_Missense_Mutation_p.F46L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	82					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.F82L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGCTGTAAACTCTGCCT	0.423000													43	69					0	0	0.139131	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267478	71267478	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:71267478C>A	ENST00000554752.2	-	2	725	c.726G>T	c.(724-726)ctG>ctT	p.L242L	MAP3K9_ENST00000555993.2_Silent_p.L242L|MAP3K9_ENST00000381250.4_Silent_p.L242L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	242	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.L242L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCAATTCACCAGGATGTCTG	0.493000													11	87					5.50884e-06	5.85828e-06	0.093190	1	0
MAN2B1	4125	broad.mit.edu	37	19	12761005	12761005	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:12761005A>C	ENST00000456935.2	-	17	2118	c.2078T>G	c.(2077-2079)tTc>tGc	p.F693C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.F692C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	693					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.F693C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGCTGAGAAGTTCTGGTG	0.612000													62	39					0	0	0.139131	0	0
CDH9	1007	broad.mit.edu	37	5	26915812	26915812	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:26915812T>C	ENST00000231021.4	-	3	621	c.449A>G	c.(448-450)cAt>cGt	p.H150R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	150	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H150R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGATATCATGTATTTTAAT	0.388000													88	177					0	0	0.139131	0	0
GRM3	2913	broad.mit.edu	37	7	86469163	86469163	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:86469163C>T	ENST00000361669.2	+	4	3432	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	GRM3_ENST00000546348.1_Missense_Mutation_p.T370M|GRM3_ENST00000536043.1_Missense_Mutation_p.T650M|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	778					synaptic transmission	integral to plasma membrane		p.T778M(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTACACCACGTGCATCATC	0.408000													44	245					0	0	0.139131	0	0
RASAL2	9462	broad.mit.edu	37	1	178412214	178412214	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:178412214G>T	ENST00000448150.3	+	8	2096	c.1278G>T	c.(1276-1278)ctG>ctT	p.L426L	RASAL2_ENST00000462775.1_Silent_p.L296L|RASAL2_ENST00000367649.3_Silent_p.L444L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	296	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L426L(2)|p.L296L(2)|p.L444L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCACCATTCTGCCTATGGAGC	0.413000													52	295					5.10508e-28	6.08765e-28	0.139131	1	0
BBS7	55212	broad.mit.edu	37	4	122782798	122782798	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:122782798T>A	ENST00000264499.4	-	4	385	c.202A>T	c.(202-204)Agg>Tgg	p.R68W	BBS7_ENST00000506636.1_Missense_Mutation_p.R68W	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	68					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R68W(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCCAGCCTTGCAATCTTC	0.398000									Bardet-Biedl syndrome				22	25					0	0	0.083992	0	0
PROL1	58503	broad.mit.edu	37	4	71275347	71275347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:71275347G>T	ENST00000399575.2	+	3	476	c.302G>T	c.(301-303)gGt>gTt	p.G101V	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCTTTCCGGGTTATCCAAAC	0.403000													210	361					4.15448e-123	5.71994e-123	0.139131	1	0
PCNX	22990	broad.mit.edu	37	14	71444881	71444881	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:71444881T>C	ENST00000304743.2	+	6	2273	c.1827T>C	c.(1825-1827)agT>agC	p.S609S	PCNX_ENST00000238570.5_Silent_p.S609S|PCNX_ENST00000439984.3_Silent_p.S609S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	609	Ser-rich.					integral to membrane		p.S609S(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGACTTGAGTAGAGCATCAA	0.473000													100	125					0	0	0.139131	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289671	18289671	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:18289671T>C	ENST00000377369.2	+	11	1949	c.1676T>C	c.(1675-1677)aTa>aCa	p.I559T	SLC39A12_ENST00000377371.3_Missense_Mutation_p.I558T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.I425T|SLC39A12_ENST00000377374.4_Missense_Mutation_p.I522T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	559					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.I522T(2)		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						GGCCTAGCCATAGGAGCAGCC	0.438000													89	197					0	0	0.139131	0	0
MAGI1	9223	broad.mit.edu	37	3	65456009	65456009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:65456009G>T	ENST00000330909.8	-	5	907	c.908C>A	c.(907-909)cCt>cAt	p.P303H	MAGI1_ENST00000402939.2_Missense_Mutation_p.P303H|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.P303H|MAGI1_ENST00000483466.1_Missense_Mutation_p.P303H	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	303	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P303H(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTTTTCAGGTAGAGGACC	0.413000													76	70					1.19347e-43	1.50504e-43	0.139131	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862789	10862789	+	RNA	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:10862789G>C	ENST00000559480.1	+	0	85																		p.E29*(1)|p.E29Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCTGGGGCTGAGGTGAAGAA	0.562000													24	349					0	0	0.080422	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55721652C>A	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G957*(4)|p.G962*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			31	54					1.7881e-09	1.98291e-09	0.134883	1	0
MARCH10	162333	broad.mit.edu	37	17	60814179	60814179	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:60814179A>C	ENST00000544856.2	-	7	1425	c.1047T>G	c.(1045-1047)agT>agG	p.S349R	MARCH10_ENST00000583600.1_Missense_Mutation_p.S388R|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S350R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S350R|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	350							ligase activity|zinc ion binding	p.S350R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGAGCCATGACTGGGCTCAC	0.483000													39	211					0	0	0.104719	0	0
SPTA1	6708	broad.mit.edu	37	1	158609691	158609691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:158609691C>A	ENST00000368148.3	-	34	5024	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1615I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1615					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1615I(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCCGGATGCTTGTGTTGAA	0.448000													104	153					1.81606e-51	2.35262e-51	0.139131	1	0
RASAL2	9462	broad.mit.edu	37	1	178310735	178310735	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:178310735A>G	ENST00000462775.1	+	1	130	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	RASAL2_ENST00000448150.3_Intron|RASAL2_ENST00000367649.3_Intron	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	2					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.Q2R(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CACACGATGCAGACCCCAGGT	0.428000													42	82					0	0	0.139131	0	0
MRPL19	9801	broad.mit.edu	37	2	75881899	75881899	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:75881899C>T	ENST00000393909.2	+	5	538	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Silent_p.V171V	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	171					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.V171V(2)		kidney(1)|large_intestine(1)|lung(6)	8						ATCCTCGGGTCCAGGAGATTC	0.378000													79	342					0	0	0.139131	0	0
CBX2	84733	broad.mit.edu	37	17	77755587	77755587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:77755587G>A	ENST00000310942.4	+	4	379	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CBX2_ENST00000269399.5_Missense_Mutation_p.R92H	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	92	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R92H(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCAGCCGGCGCTCCAAGCTC	0.657000													3	16					0	0	0.115264	0	0
URB2	9816	broad.mit.edu	37	1	229779384	229779384	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:229779384A>T	ENST00000258243.2	+	5	3875	c.3739A>T	c.(3739-3741)Atg>Ttg	p.M1247L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1247						nucleolus		p.M1247L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGGCTGGTGATGCAGTGTAT	0.512000													70	217					0	0	0.139131	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752748	49752748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:49752748C>A	ENST00000492622.2	+	14	1880	c.1575C>A	c.(1573-1575)taC>taA	p.Y525*	FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Y525*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Y469*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	525	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.Y525*(2)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCTTGCTTACACAGTGAAAA	0.343000													44	46					2.76378e-25	3.24148e-25	0.139131	1	0
MYLK	4638	broad.mit.edu	37	3	123375980	123375980	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:123375980T>C	ENST00000360772.3	-	25	4659	c.4281A>G	c.(4279-4281)aaA>aaG	p.K1427K	MYLK_ENST00000359169.1_Silent_p.K1427K|MYLK_ENST00000354792.5_Silent_p.K227K|MYLK_ENST00000360304.3_Silent_p.K1427K|MYLK_ENST00000346322.5_Silent_p.K1358K|MYLK_ENST00000475616.1_Silent_p.K1427K			Q15746	MYLK_HUMAN	myosin light chain kinase	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K1427K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCTTCAGGTTTCTCTCCTA	0.478000													97	120					0	0	0.139131	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													10	32					0	0	0.058154	0	0
FAT3	120114	broad.mit.edu	37	11	92526040	92526040	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:92526040G>A	ENST00000298047.6	+	8	4736	c.4719G>A	c.(4717-4719)gcG>gcA	p.A1573A	FAT3_ENST00000409404.2_Silent_p.A1573A|FAT3_ENST00000525166.1_Silent_p.A1423A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1573A(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATGAAGCGTCTGTGTTTG	0.438000										TCGA Ovarian(4;0.039)			36	286					0	0	0.111260	0	0
LRP1B	53353	broad.mit.edu	37	2	141773418	141773418	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141773418G>T	ENST00000389484.3	-	13	3008	c.2037C>A	c.(2035-2037)gcC>gcA	p.A679A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATCCAGGCCTTCTCAA	0.413000										TSP Lung(27;0.18)			70	189					2.25582e-47	2.85737e-47	0.139131	1	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													6	6					0	0	0.021553	0	0
HEATR3	55027	broad.mit.edu	37	16	50134194	50134194	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:50134194T>G	ENST00000299192.7	+	13	1844	c.1653T>G	c.(1651-1653)agT>agG	p.S551R	HEATR3_ENST00000285767.4_Missense_Mutation_p.S465R	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	551							binding	p.S551R(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCATAGTAGTAATGTCGGGG	0.378000													71	149					0	0	0.139131	0	0
ALDH7A1	501	broad.mit.edu	37	5	125912853	125912853	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:125912853T>A	ENST00000409134.3	-	6	787	c.568A>T	c.(568-570)Atc>Ttc	p.I190F	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I190F|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I217F	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	190					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.I162F(2)|p.I217F(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GCCGTGATGATTCCAACCAGG	0.483000													48	37					0	0	0.139131	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825245	43825245	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:43825245T>G	ENST00000389420.3	-	22	3150	c.3151A>C	c.(3151-3153)Aat>Cat	p.N1051H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N205H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1051H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1051	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding	p.N1051H(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGATCTACATTCAGCTGACAC	0.413000													123	246					0	0	0.139131	0	0
OR1D5	8386	broad.mit.edu	37	17	2966252	2966252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:2966252G>A	ENST00000575751.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217F(4)|p.S217Y(2)		kidney(1)|lung(10)	11						ACGTACATAGGATGTGGTCAT	0.507000													48	54					0	0	0.139131	0	0
PTENP1	11191	broad.mit.edu	37	9	33676027	33676027	+	RNA	SNP	C	C	A	rs855465	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:33676027C>A	ENST00000532280.1	-	0	1470					NR_023917.1																						GCAAGTTCCGCCACTGAACAT	0.418000													7	140					1.06961e-07	1.16797e-07	0.038147	1	0
GRIN2A	2903	broad.mit.edu	37	16	10032336	10032336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:10032336G>T	ENST00000396573.2	-	4	796	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAATCCTGCATGATCTTC	0.498000													140	275					1.45191e-84	1.97045e-84	0.139131	1	0
AKT3	10000	broad.mit.edu	37	1	243809209	243809209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:243809209G>A	ENST00000366539.1	-	5	615	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	AKT3_ENST00000366540.1_Missense_Mutation_p.H139Y|AKT3_ENST00000263826.5_Missense_Mutation_p.H139Y|AKT3_ENST00000336199.5_Missense_Mutation_p.H139Y			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	139					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.H139Y(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTTTATGATGGGTTGTAGAG	0.378000													56	67					0	0	0.139131	0	0
PTPRT	11122	broad.mit.edu	37	20	40980917	40980917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:40980917G>T	ENST00000373198.3	-	10	1804	c.1569C>A	c.(1567-1569)taC>taA	p.Y523*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y523*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	523	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y523*(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGACAGCCTTGTAGTTGATCT	0.532000													19	135					3.11337e-16	3.54925e-16	0.054565	1	0
RP11-464F9.1	0	broad.mit.edu	37	10	75487081	75487081	+	RNA	SNP	C	C	T	rs7099599	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:75487081C>T	ENST00000399449.3	-	0	396				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							CCTCTGATCTCGGTCAACTTC	0.517000													6	92					0	0	0.038147	0	0
LARP4B	23185	broad.mit.edu	37	10	910104	910104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:910104C>A	ENST00000316157.3	-	3	288	c.248G>T	c.(247-249)tGg>tTg	p.W83L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CACCTCCTCCCATGCAGCACT	0.592000													61	63					1.25742e-37	1.56491e-37	0.139131	1	0
EVI5	7813	broad.mit.edu	37	1	93089858	93089858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:93089858C>A	ENST00000370331.1	-	14	1663	c.1654G>T	c.(1654-1656)Gac>Tac	p.D552Y	EVI5_ENST00000540033.1_Missense_Mutation_p.D552Y|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.D563Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	552	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.D552Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTGGGTGGGTCTTTCCATCTC	0.353000													55	240					5.0973e-17	5.85779e-17	0.139131	1	0
CCDC178	374864	broad.mit.edu	37	18	30804833	30804833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:30804833A>G	ENST00000383096.3	-	17	1906	c.1724T>C	c.(1723-1725)aTa>aCa	p.I575T	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.I575T|CCDC178_ENST00000583930.1_Missense_Mutation_p.I575T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I575T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I575T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I575T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I575T					coiled-coil domain containing 178									p.I575T(4)									CATGGCACATATTGCTCTATT	0.378000													19	38					0	0	0.049695	0	0
PCDH15	65217	broad.mit.edu	37	10	55955474	55955474	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55955474C>G	ENST00000373965.2	-	11	1668	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	PCDH15_ENST00000395430.1_Missense_Mutation_p.R425T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R430T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R425T|PCDH15_ENST00000395438.1_Missense_Mutation_p.R425T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R29T|PCDH15_ENST00000373955.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R403T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R388T|PCDH15_ENST00000395446.1_Missense_Mutation_p.R425T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R425T|PCDH15_ENST00000320301.6_Missense_Mutation_p.R425T|PCDH15_ENST00000395440.1_Missense_Mutation_p.R425T|PCDH15_ENST00000373957.3_Missense_Mutation_p.R403T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R430T(4)|p.R425T(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTACTATTCTTAAAGGTGA	0.368000										HNSCC(58;0.16)			95	357					0	0	0.139131	0	0
SNX25	83891	broad.mit.edu	37	4	186244912	186244912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:186244912A>T	ENST00000504273.1	+	9	1509	c.1215A>T	c.(1213-1215)gaA>gaT	p.E405D	SNX25_ENST00000264694.8_Missense_Mutation_p.E405D|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	405					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E405D(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAAAAGAGGAAGAAAAACATG	0.338000													27	67					0	0	0.069456	0	0
GPAM	57678	broad.mit.edu	37	10	113920368	113920368	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:113920368T>C	ENST00000348367.4	-	16	1950	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	GPAM_ENST00000423155.1_Missense_Mutation_p.I585V|GPAM_ENST00000369425.1_Missense_Mutation_p.I585V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	585					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.I585V(2)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ATACCTATGATGGCCTCCATG	0.393000													49	141					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70255663	70255663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:70255663G>A	ENST00000342771.4	+	19	3782	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1130H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1154	His-rich.							p.R1154H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCGGGAGCGCTTGCACATG	0.692000													5	16					0	0	0.014758	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55364093	55364093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:55364093C>A	ENST00000398661.2	-	7	768	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.V183L|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.V151L|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	213							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.V213L(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACAAGACACATACCTAAAT	0.323000													47	155					1.64591e-14	1.85409e-14	0.139131	1	0
TXNDC11	51061	broad.mit.edu	37	16	11827847	11827847	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:11827847T>C	ENST00000356957.3	-	3	667	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.Y187C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	187	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.Y187C(2)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCCGATGATACAGATATAT	0.333000													28	48					0	0	0.059317	0	0
AEN	64782	broad.mit.edu	37	15	89172497	89172497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:89172497C>T	ENST00000332810.3	+	3	732	c.581C>T	c.(580-582)gCg>gTg	p.A194V	AEN_ENST00000379231.3_Missense_Mutation_p.A194V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	194	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGGGCACGCGCTGCACAAC	0.612000													9	141					0	0	0.119110	0	0
ZNF479	90827	broad.mit.edu	37	7	57188680	57188680	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:57188680A>G	ENST00000331162.4	-	5	712	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C148R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGACAAACATTGGTTAACT	0.308000													51	85					0	0	0.139131	0	0
PC	5091	broad.mit.edu	37	11	66618624	66618624	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:66618624T>C	ENST00000393960.1	-	17	2391	c.2110A>G	c.(2110-2112)Atc>Gtc	p.I704V	PC_ENST00000393958.2_Missense_Mutation_p.I704V|PC_ENST00000393955.2_Missense_Mutation_p.I704V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	704	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.I704V(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGTATGAGATGGCAGCCTCC	0.612000													25	19					0	0	0.134883	0	0
KLHL14	57565	broad.mit.edu	37	18	30349754	30349754	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:30349754G>T	ENST00000359358.4	-	2	1239	c.801C>A	c.(799-801)gcC>gcA	p.A267A	KLHL14_ENST00000358095.4_Silent_p.A267A	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	267	BACK.					cytosol|endoplasmic reticulum membrane		p.A267A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCGGGATGAGGGCGAAGCGGA	0.652000													6	13					0.0293803	0.0297986	0.029380	1	0
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	G	A	rs145360326	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:141693948G>A	ENST00000344120.4	-	3	981	c.795C>T	c.(793-795)tcC>tcT	p.S265S	SPRY4_ENST00000434127.2_Silent_p.S242S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682000									Testicular Cancer, Familial Clustering of				10	5					0	0	0.080935	0	0
KCNK18	338567	broad.mit.edu	37	10	118969656	118969656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:118969656C>T	ENST00000334549.1	+	3	1001	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTAGAACACCCTAACTTCTTC	0.418000													79	131					0	0	0.139131	0	0
COL11A1	1301	broad.mit.edu	37	1	103544261	103544261	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:103544261G>T	ENST00000358392.2	-	3	758	c.441C>A	c.(439-441)gcC>gcA	p.A147A	COL11A1_ENST00000353414.4_Silent_p.A147A|COL11A1_ENST00000512756.1_Silent_p.A147A|COL11A1_ENST00000370096.3_Silent_p.A147A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	147	TSP N-terminal.				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	p.A147A(4)		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)		AGTCTTCTGGGGCAGGTTTTC	0.368000													43	70					2.01872e-29	2.43786e-29	0.139131	1	0
ARPP21	10777	broad.mit.edu	37	3	35750491	35750491	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:35750491A>G	ENST00000187397.4	+	11	1282	c.826A>G	c.(826-828)Aga>Gga	p.R276G	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	276						cytoplasm	nucleic acid binding	p.R276G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAGAGATGACAGACGAAGTAA	0.378000													23	80					0	0	0.099896	0	0
MYH8	4626	broad.mit.edu	37	17	10297637	10297637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:10297637C>A	ENST00000403437.2	-	35	5189	c.5095G>T	c.(5095-5097)Gag>Tag	p.E1699*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1699					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1699*(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTTCTCTCTGTCTGTTCC	0.587000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				71	71					9.7435e-18	1.12425e-17	0.139131	1	0
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:226924682C>A	ENST00000429204.1	-	2	805	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	ITPKB_ENST00000272117.3_Missense_Mutation_p.A160S|ITPKB_ENST00000366784.1_Missense_Mutation_p.A160S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A160S(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652000													5	19					0.0381472	0.0384168	0.038147	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70594557	70594557	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70594557A>C	ENST00000260126.3	-	7	2350	c.1644T>G	c.(1642-1644)caT>caG	p.H548Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.H548Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.H493Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	548						integral to membrane|plasma membrane	transporter activity	p.H548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGATTCCTATGGGGCATGG	0.388000													118	362					0	0	0.139131	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811966	129811966	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:129811966C>T	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TGACTCTTGACGGACAGAACC	0.413000													9	60					0	0	0.119110	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477490	74477490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:74477490C>A	ENST00000394019.2	-	17	2030	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	SLC4A5_ENST00000423644.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D545Y|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D545Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D545Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	545						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.D545Y(4)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGGTGGCATCCCCCAGAAGC	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	104					3.52157e-22	4.1133e-22	0.139131	1	0
SSRP1	6749	broad.mit.edu	37	11	57100472	57100472	+	Silent	SNP	G	G	A	rs113062066	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:57100472G>A	ENST00000278412.2	-	5	764	c.498C>T	c.(496-498)taC>taT	p.Y166Y		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	166					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.Y166Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGGTGGGACGTAGAAGCGCA	0.582000													4	57					0	0	0.014758	0	0
UBE2J1	51465	broad.mit.edu	37	6	90042806	90042806	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:90042806G>T	ENST00000435041.2	-	7	955	c.678_splice	c.e7+1	p.S226_splice		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	226						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S226*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GAGCCATACCGATGTACTGGC	0.363000													6	164					0.00198382	0.00204111	0.029380	1	0
CLCA2	9635	broad.mit.edu	37	1	86898148	86898148	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:86898148C>T	ENST00000370565.4	+	5	843	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	227					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.T227T(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGGATGCACCTTTATCTACA	0.378000													152	204					0	0	0.139131	0	0
PEG3	5178	broad.mit.edu	37	19	57327504	57327504	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:57327504T>C	ENST00000326441.9	-	10	2669	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Y643C|PEG3_ENST00000423103.2_Missense_Mutation_p.Y769C|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y645C|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	769					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y769C(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGCCTCATAGACATTTTC	0.418000													171	142					0	0	0.139131	0	0
IFNA2	3440	broad.mit.edu	37	9	21385084	21385084	+	Missense_Mutation	SNP	A	A	T	rs150636116		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:21385084A>T	ENST00000380206.2	-	1	312	c.245T>A	c.(244-246)aTg>aAg	p.M82K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	82					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.M82K(2)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGCTGGATCATCTCATGGAG	0.483000													41	99					0	0	0.111260	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768627	31768627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:31768627C>A	ENST00000355459.2	+	1	236	c.223C>A	c.(223-225)Ccc>Acc	p.P75T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament		p.P75T(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGTCCAGCCCCTGCCAGAC	0.612000													53	73					4.6707e-30	5.68867e-30	0.139131	1	0
COL20A1	57642	broad.mit.edu	37	20	61956845	61956845	+	Splice_Site	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:61956845A>G	ENST00000422202.1	+	27	3436	c.3369_splice	c.e27+1	p.Q1123_splice	COL20A1_ENST00000358894.6_Splice_Site_p.Q1116_splice|COL20A1_ENST00000435874.1_Splice_Site_p.Q1123_splice|COL20A1_ENST00000326996.6_Splice_Site_p.Q1148_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1116	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity	p.Q1116R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAGGCTTGCAGGTAGTGTGG	0.682000													2	6					0	0	0.115264	0	0
MMP2	4313	broad.mit.edu	37	16	55530913	55530913	+	Silent	SNP	C	C	T	rs41521545	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:55530913C>T	ENST00000219070.4	+	10	2057	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	MMP2_ENST00000543485.1_Silent_p.L440L|MMP2_ENST00000437642.2_Silent_p.L466L|MMP2_ENST00000570308.1_Silent_p.L440L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	516	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.L516L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGCCTGAGCTCCCGGAAAAGA	0.612000													13	128					0	0	0.119110	0	0
DACH1	1602	broad.mit.edu	37	13	72255950	72255950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:72255950G>T	ENST00000305425.4	-	2	1369	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	DACH1_ENST00000359684.2_Missense_Mutation_p.S316Y|DACH1_ENST00000313174.7_Missense_Mutation_p.S316Y|DACH1_ENST00000354591.4_Missense_Mutation_p.S316Y	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S316Y(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATCCCAGGAGACATGAGACC	0.438000													90	68					1.30488e-61	1.73781e-61	0.139131	1	0
TRPC1	7220	broad.mit.edu	37	3	142503717	142503717	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:142503717A>T	ENST00000273482.6	+	6	1421	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R378*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	378					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R344*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCAGTTTGGCAGAATCATTCA	0.368000													78	179					0	0	0.139131	0	0
LRRC7	57554	broad.mit.edu	37	1	70488886	70488886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:70488886C>A	ENST00000310961.5	+	18	1942	c.1524C>A	c.(1522-1524)tgC>tgA	p.C508*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.C503*|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	503						centrosome|focal adhesion|nucleolus	protein binding	p.C503*(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGGCGATTGCTGCACACCAT	0.582000													18	87					2.37509e-13	2.64415e-13	0.055883	1	0
LRP1B	53353	broad.mit.edu	37	2	141819658	141819658	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141819658G>T	ENST00000389484.3	-	8	2169	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTTCCTTGATAGTCCACT	0.393000										TSP Lung(27;0.18)			152	391					2.49681e-90	3.40474e-90	0.139131	1	0
HOOK2	29911	broad.mit.edu	37	19	12877043	12877043	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:12877043A>G	ENST00000264827.5	-	15	1555	c.1385T>C	c.(1384-1386)cTg>cCg	p.L462P	HOOK2_ENST00000397668.3_Missense_Mutation_p.L462P|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	462	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTGAAGCCGCAGGAGCGTCTC	0.711000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	2					0	0	0.009096	0	0
SCN3A	6328	broad.mit.edu	37	2	166010962	166010962	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:166010962C>T	ENST00000360093.3	-	11	1871	c.1380_splice	c.e11+1	p.Q460_splice	SCN3A_ENST00000283254.7_Splice_Site_p.Q460_splice|SCN3A_ENST00000409101.3_Splice_Site_p.Q460_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q460Q(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACTCAGTACCTGAGCTTCTT	0.368000													31	112					0	0	0.069456	0	0
DENND3	22898	broad.mit.edu	37	8	142170817	142170817	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:142170817G>T	ENST00000519811.1	+	9	1353	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	DENND3_ENST00000424248.1_Intron|DENND3_ENST00000262585.2_Missense_Mutation_p.R348L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	348								p.R348L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACCGGCGGTCCTGGCAG	0.617000													12	32					8.60227e-14	9.61431e-14	0.146539	1	0
ITPR2	3709	broad.mit.edu	37	12	26596529	26596529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:26596529C>T	ENST00000381340.3	-	46	6813	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2133					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.D2133N(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCCTTCATCTGGATCCGAT	0.403000													40	75					0	0	0.139131	0	0
CA8	767	broad.mit.edu	37	8	61193624	61193624	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:61193624T>A	ENST00000317995.4	-	1	347	c.83A>T	c.(82-84)gAg>gTg	p.E28V		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	28	Glu-rich (acidic).				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.E28V(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GTAGCCCCACTCCACACcctc	0.677000													14	10					0	0	0.043863	0	0
SPIRE1	56907	broad.mit.edu	37	18	12506572	12506572	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:12506572C>A	ENST00000409402.4	-	6	1143	c.876G>T	c.(874-876)cgG>cgT	p.R292R	SPIRE1_ENST00000453447.2_Silent_p.R172R|SPIRE1_ENST00000309836.5_Silent_p.R95R|SPIRE1_ENST00000410092.3_Silent_p.R292R|SPIRE1_ENST00000383356.2_Silent_p.R133R	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	292						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.R292R(2)|p.R133R(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGTTGTACTGCCGCTCTTGGA	0.443000													179	342					4.03399e-77	5.42306e-77	0.139131	1	0
SEC23B	10483	broad.mit.edu	37	20	18523047	18523047	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:18523047G>A	ENST00000336714.3	+	13	1943		c.e13+1		SEC23B_ENST00000262544.2_Splice_Site|SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCGCCCGAAAGTAAGCAGCCC	0.488000													110	218					0	0	0.139131	0	0
IARS	3376	broad.mit.edu	37	9	94973152	94973152	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:94973152G>A	ENST00000375643.3	-	34	3992	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	IARS_ENST00000443024.2_Silent_p.P1242P|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Silent_p.P1132P	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1242					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.P1242P(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTCTTCACGGGGATGTCTT	0.353000													47	47					0	0	0.139131	0	0
CYTH4	27128	broad.mit.edu	37	22	37708205	37708205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:37708205G>T	ENST00000248901.6	+	12	1289	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	368	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E368*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGTGGATCGAGTCCATCCG	0.607000													32	52					3.54561e-26	4.19294e-26	0.111260	1	0
PCDH15	65217	broad.mit.edu	37	10	55587214	55587214	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55587214G>A	ENST00000373965.2	-	33	4721	c.4327C>T	c.(4327-4329)Ccg>Tcg	p.P1443S	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1433S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1438S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1436S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1436S|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1047S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1411S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1396S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1365S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1443S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1436S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1436S(4)|p.P1438S(2)|p.P1441S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggcggcggcgggggcgCTGCC	0.587000										HNSCC(58;0.16)			5	6					0	0	0.029380	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G	rs115791874	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597000													3	37					0	0	0.069234	0	0
DLL3	10683	broad.mit.edu	37	19	39991296	39991296	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:39991296A>T	ENST00000205143.4	+	3	400	c.393A>T	c.(391-393)ttA>ttT	p.L131F	DLL3_ENST00000356433.5_Missense_Mutation_p.L131F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	131					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.L131F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAGGAGTTAGGAGACCAGA	0.517000													20	26					0	0	0.076483	0	0
CFAP54	144535	broad.mit.edu	37	12	97158873	97158873	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:97158873G>T	ENST00000524981.3	+	27	3511	c.3511G>T	c.(3511-3513)Gca>Tca	p.A1171S				Q6ZTY8	CL063_HUMAN		1145								p.A1145S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCTGTGCTGGCAATTAACTT	0.299000													70	108					7.7321e-48	9.88183e-48	0.139131	1	0
XIST	7503	broad.mit.edu	37	X	73063798	73063798	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:73063798T>C	ENST00000429829.1	-	0	8790					NR_001564.2																						GAAGGGGCCTTGGAGGGAAAC	0.388000													9	6					0	0	0.047766	0	0
LPHN3	23284	broad.mit.edu	37	4	62598911	62598911	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:62598911A>G	ENST00000512091.1	+	7	1581	c.834A>G	c.(832-834)acA>acG	p.T278T	LPHN3_ENST00000504896.1_Silent_p.T278T|LPHN3_ENST00000507164.1_Silent_p.T346T|LPHN3_ENST00000509896.1_Silent_p.T346T|LPHN3_ENST00000507625.1_Silent_p.T346T|LPHN3_ENST00000508946.1_Silent_p.T278T|LPHN3_ENST00000545650.1_Silent_p.T278T|LPHN3_ENST00000514591.1_Silent_p.T278T|LPHN3_ENST00000508693.1_Silent_p.T346T|LPHN3_ENST00000514157.1_Silent_p.T278T|LPHN3_ENST00000506746.1_Silent_p.T346T|LPHN3_ENST00000506700.1_Silent_p.T278T|LPHN3_ENST00000514996.1_Silent_p.T278T|LPHN3_ENST00000506720.1_Silent_p.T346T|LPHN3_ENST00000511324.1_Silent_p.T346T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	278	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T278T(3)		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						TCTATGCAACAGAACAAAACA	0.428000													28	50					0	0	0.125774	0	0
HCAR3	8843	broad.mit.edu	37	12	123201205	123201205	+	Missense_Mutation	SNP	G	G	A	rs148858491	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:123201205G>A	ENST00000528880.2	-	1	234	c.80C>T	c.(79-81)gCc>gTc	p.A27V	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	27						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A27V(3)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CAACACCTTGGCAATGAAGTC	0.507000													4	78					0	0	0.014758	0	0
FAM214B	80256	broad.mit.edu	37	9	35107649	35107649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:35107649C>A	ENST00000378561.1	-	2	3678	c.623G>T	c.(622-624)gGg>gTg	p.G208V	FAM214B_ENST00000603301.1_Missense_Mutation_p.G208V|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208V|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208V|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208V|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208V|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208V			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									GAGGCTACCCCCATTGCCCAC	0.657000													9	20					1.76689e-08	1.9518e-08	0.058154	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813655	106813655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:106813655C>G	ENST00000407775.2	+	8	1595	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V	ZFPM2_ENST00000520492.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L180V|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	449					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L449V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGCTCTTTCTCACGAACCA	0.463000													10	83					0	0	0.093190	0	0
LUC7L	55692	broad.mit.edu	37	16	242974	242974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:242974C>T	ENST00000337351.4	-	7	851	c.728G>A	c.(727-729)cGc>cAc	p.R243H	LUC7L_ENST00000397783.1_Missense_Mutation_p.R243H|LUC7L_ENST00000397780.1_Missense_Mutation_p.R190H|LUC7L_ENST00000293872.8_Missense_Mutation_p.R243H	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	243	Arg/Ser-rich.						metal ion binding	p.R243H(4)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCTCAAGCGATCCTGATT	0.507000													34	87					0	0	0.064281	0	0
THBS2	7058	broad.mit.edu	37	6	169621556	169621556	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:169621556G>C	ENST00000366787.3	-	21	3589	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1114	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L1114V(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGTGAGTCAGGTGCCACCTA	0.547000													14	19					0	0	0.146539	0	0
WDR34	89891	broad.mit.edu	37	9	131397515	131397515	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:131397515C>A	ENST00000372715.2	-	6	897	c.837G>T	c.(835-837)ggG>ggT	p.G279G	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	279						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						GGTGGCTGTGCCCAGGCTCGG	0.657000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	3					1.23904e-05	1.30788e-05	0.014758	1	0
TAF2	6873	broad.mit.edu	37	8	120814149	120814149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:120814149G>C	ENST00000378164.2	-	6	975	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	226					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T226S(4)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATATCATGAGTATACACTGT	0.378000													108	288					0	0	0.139131	0	0
ASPM	259266	broad.mit.edu	37	1	197072028	197072028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:197072028C>A	ENST00000367409.4	-	18	6609	c.6353G>T	c.(6352-6354)aGg>aTg	p.R2118M	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2118	IQ 16.|IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2118M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGTGGCTGCCCTGTGCATGTG	0.328000													92	191					4.58075e-42	5.75116e-42	0.139131	1	0
AXIN1	8312	broad.mit.edu	37	16	343556	343556	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:343556C>T	ENST00000262320.3	-	8	2489	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	AXIN1_ENST00000354866.3_Silent_p.Q706Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	706	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Q706Q(3)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCCTCCAGCTGGGTTAGGG	0.682000													3	2					0	0	0.115264	0	0
ABCB5	340273	broad.mit.edu	37	7	20739538	20739538	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:20739538A>T	ENST00000404938.2	+	18	2897	c.2245A>T	c.(2245-2247)Agt>Tgt	p.S749C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S304C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	304	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S304C(1)|p.S749C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGCTTTGTCAGTTATTTCAT	0.294000													15	116					0	0	0.033300	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935547	155935547	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:155935547G>A	ENST00000368316.1	-	9	734	c.264C>T	c.(262-264)acC>acT	p.T88T	ARHGEF2_ENST00000368315.3_Silent_p.T116T|ARHGEF2_ENST00000361247.4_Silent_p.T115T|ARHGEF2_ENST00000313667.4_Silent_p.T115T|ARHGEF2_ENST00000313695.7_Silent_p.T88T			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	115					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.T88T(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCCCGGATGGTTGCTGTGG	0.622000													9	17					0	0	0.080935	0	0
DNAJA4	55466	broad.mit.edu	37	15	78558628	78558628	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:78558628T>G	ENST00000446172.2	+	1	106	c.44T>G	c.(43-45)cTc>cGc	p.L15R	DNAJA4_ENST00000343789.3_Intron|DNAJA4_ENST00000394852.3_Intron|DNAJA4_ENST00000394855.3_Intron	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	0	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.L15R(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ATCTCAGCACTCACAAGAGTA	0.393000													18	13					0	0	0.069288	0	0
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:103477982C>A	ENST00000358392.2	-	14	1969	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	COL11A1_ENST00000353414.4_Missense_Mutation_p.R500I|COL11A1_ENST00000512756.1_Missense_Mutation_p.R423I|COL11A1_ENST00000370096.3_Missense_Mutation_p.R539I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	539	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	p.R539I(2)|p.R551I(2)|p.R539T(1)|p.R551T(1)		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)		AGGACCTGGTCTTCCAGTTAG	0.398000													14	35					5.3912e-06	5.77629e-06	0.038395	1	0
LRP1B	53353	broad.mit.edu	37	2	141032086	141032086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141032086C>A	ENST00000389484.3	-	85	14020	c.13049G>T	c.(13048-13050)cGc>cTc	p.R4350L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4350	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4350L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTTCATAGCGCGTTGGACA	0.423000										TSP Lung(27;0.18)			111	184					5.62627e-71	7.5281e-71	0.139131	1	0
EPHA7	2045	broad.mit.edu	37	6	93956601	93956601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:93956601C>T	ENST00000369303.4	-	15	2819	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	879	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E879K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGCCTTTCAGCACGCTCC	0.418000													70	105					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			40	17					6.57855e-14	7.38144e-14	0.111260	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477349	110477349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:110477349G>T	ENST00000378402.5	+	49	8392	c.8288G>T	c.(8287-8289)tGt>tTt	p.C2763F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2763					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2765F(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTGGAGTTTGTAATGACAGA	0.468000										HNSCC(38;0.096)			99	345					1.54984e-59	2.04493e-59	0.139131	1	0
LTN1	26046	broad.mit.edu	37	21	30339448	30339448	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:30339448C>T	ENST00000361371.4	-	10	1515	c.1365G>A	c.(1363-1365)caG>caA	p.Q455Q	LTN1_ENST00000389195.2_Silent_p.Q501Q|LTN1_ENST00000389194.2_Silent_p.Q501Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	455							ligase activity|zinc ion binding	p.Q455Q(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGTTAAATAGCTGCCCATGTT	0.378000													48	84					0	0	0.139131	0	0
CNGB3	54714	broad.mit.edu	37	8	87591351	87591351	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:87591351G>C	ENST00000320005.5	-	16	1958	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637					signal transduction|visual perception	integral to membrane	cGMP binding	p.I637M(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTCATGAGGATCCTTTCAG	0.408000													194	160					0	0	0.139131	0	0
DGCR14	8220	broad.mit.edu	37	22	19124931	19124931	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:19124931G>A	ENST00000252137.6	-	8	983	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	314					nervous system development	catalytic step 2 spliceosome		p.P314S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCATCATCGGGGACTCGTTC	0.592000													48	61					0	0	0.139131	0	0
LRP1B	53353	broad.mit.edu	37	2	141122289	141122289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141122289C>T	ENST00000389484.3	-	72	12043	c.11072G>A	c.(11071-11073)tGg>tAg	p.W3691*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3691	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W3691*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCACACACCCAGAAATGTAG	0.383000										TSP Lung(27;0.18)			22	87					0	0	0.125774	0	0
OR2L3	391192	broad.mit.edu	37	1	248224306	248224306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248224306G>T	ENST00000359959.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCATTAGGAGGTGCAGAAGCA	0.438000													245	383					6.39127e-201	8.88543e-201	0.139131	1	0
LTK	4058	broad.mit.edu	37	15	41799788	41799788	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:41799788G>A	ENST00000263800.6	-	10	1413	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	LTK_ENST00000561619.1_Silent_p.L121L|LTK_ENST00000453182.2_Silent_p.L378L|LTK_ENST00000355166.5_Silent_p.L378L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	439					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L439L(2)|p.L378L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACACCATAAGGAGGCTCAGTG	0.577000										TSP Lung(18;0.14)			3	5					0	0	0.115264	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139538	68139538	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:68139538T>A	ENST00000262215.3	-	27	4139	c.3750A>T	c.(3748-3750)ccA>ccT	p.P1250P	ARFGEF1_ENST00000518230.1_Silent_p.P88P|ARFGEF1_ENST00000520381.1_Silent_p.P704P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1250					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P1250P(2)		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)			CTCGAATTGTTGGAGACCTAA	0.368000													91	263					0	0	0.139131	0	0
RNF212	285498	broad.mit.edu	37	4	1066945	1066945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:1066945C>A	ENST00000433731.2	-	10	672	c.611G>T	c.(610-612)tGg>tTg	p.W204L	RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212	204							zinc ion binding	p.W204L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAAGGTCAACCATGGGATGAA	0.552000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	200					1.64933e-60	2.18633e-60	0.139131	1	0
USP47	55031	broad.mit.edu	37	11	11964023	11964023	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:11964023A>T	ENST00000339865.5	+	19	3014	c.2251A>T	c.(2251-2253)Agg>Tgg	p.R751W	USP47_ENST00000399455.2_Missense_Mutation_p.R839W|USP47_ENST00000539466.1_De_novo_Start_InFrame|USP47_ENST00000527733.1_Missense_Mutation_p.R819W	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	839					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.R751W(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTCCAAAAGGACAGCATA	0.423000													7	112					0	0	0.038147	0	0
LRP1B	53353	broad.mit.edu	37	2	141819657	141819657	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141819657T>A	ENST00000389484.3	-	8	2170	c.1199A>T	c.(1198-1200)cAa>cTa	p.Q400L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTTCCTTGATAGTCCAC	0.393000										TSP Lung(27;0.18)			151	390					0	0	0.139131	0	0
CSMD3	114788	broad.mit.edu	37	8	113246674	113246674	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:113246674A>G	ENST00000297405.5	-	68	10904	c.10660T>C	c.(10660-10662)Tta>Cta	p.L3554L	CSMD3_ENST00000343508.3_Silent_p.L3514L|CSMD3_ENST00000455883.2_Silent_p.L3385L|CSMD3_ENST00000352409.3_Silent_p.L3484L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3554						integral to membrane|plasma membrane		p.L3514L(2)|p.L3554L(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATATGCGTAACATTAGGCGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			115	381					0	0	0.139131	0	0
LARP4B	23185	broad.mit.edu	37	10	910105	910105	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:910105A>T	ENST00000316157.3	-	3	287	c.247T>A	c.(247-249)Tgg>Agg	p.W83R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCTCCTCCCATGCAGCACTC	0.587000													63	64					0	0	0.139131	0	0
NHEJ1	79840	broad.mit.edu	37	2	219941063	219941063	+	Silent	SNP	G	G	A	rs897477	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:219941063G>A	ENST00000409720.1	-	7	929	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NHEJ1_ENST00000356853.5_3'UTR			Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	0					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTTGGAAGCTGTTCTCCAAGT	0.473000								Non-homologous end-joining					4	47					0	0	0.021553	0	0
CNIH1	10175	broad.mit.edu	37	14	54896978	54896978	+	Splice_Site	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:54896978C>G	ENST00000216416.4	-	4	511		c.e4+1		CNIH_ENST00000553660.1_Splice_Site|CNIH_ENST00000395573.4_Intron|CNIH_ENST00000556113.1_Silent_p.G136G|CNIH_ENST00000557690.1_Splice_Site	NM_005776.2	NP_005767.1	O95406	CNIH_HUMAN							immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(112;0.00341)		TTTCAACTTACCCATATAGGT	0.328000													14	38					0	0	0.038395	0	0
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:50278670G>C	ENST00000442544.2	+	2	954	c.338G>C	c.(337-339)gGa>gCa	p.G113A	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	113	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G113A(2)|p.G113V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGATGAGGGACTTTACCAA	0.448000													175	112					0	0	0.139131	0	0
DIAPH2	1730	broad.mit.edu	37	X	96330222	96330222	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:96330222G>C	ENST00000324765.8	+	19	2556	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E733Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E737Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	737	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.E737Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTTATTCTGGAGGTTAATGA	0.313000													98	52					0	0	0.139131	0	0
C21orf128	150147	broad.mit.edu	37	21	43523941	43523941	+	Missense_Mutation	SNP	C	C	A	rs220111	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:43523941C>A	ENST00000329015.2	-	2	443	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						GTCGTGAAGACGTTGATGGAT	0.537000													4	24					0.00909568	0.00929129	0.009096	1	0
PRDM9	56979	broad.mit.edu	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512000										HNSCC(3;0.000094)			59	113					7.577e-32	9.268e-32	0.139131	1	0
FSCB	84075	broad.mit.edu	37	14	44973886	44973886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:44973886G>A	ENST00000340446.4	-	1	2596	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	769						cilium		p.P769S(2)		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)		TTTACTGCTGGAATTCCTGCC	0.408000													47	195					0	0	0.139131	0	0
RANBP6	26953	broad.mit.edu	37	9	6013604	6013604	+	Silent	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:6013604T>G	ENST00000259569.5	-	1	2014	c.2004A>C	c.(2002-2004)gtA>gtC	p.V668V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	668					protein transport	cytoplasm|nucleus	binding	p.V668V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCCAAGATTTACAAATTGCC	0.413000													5	46					0	0	0.021553	0	0
FLG	2312	broad.mit.edu	37	1	152286349	152286349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:152286349G>T	ENST00000368799.1	-	3	1048	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	338	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S338Y(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATCATGGGACCTGGGGTG	0.562000									Ichthyosis				113	182					3.89347e-56	5.09009e-56	0.139131	1	0
FAM186B	84070	broad.mit.edu	37	12	49998266	49998266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:49998266C>T	ENST00000257894.2	-	2	313	c.152G>A	c.(151-153)cGc>cAc	p.R51H	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.R51H|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	51						protein complex		p.R51H(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCTGGAAGCGGTTGATGAC	0.408000													30	182					0	0	0.069456	0	0
ASTN1	460	broad.mit.edu	37	1	177001659	177001659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:177001659G>T	ENST00000367654.2	-	3	811	c.798C>A	c.(796-798)agC>agA	p.S266R	ASTN1_ENST00000361833.2_Missense_Mutation_p.S266R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S266R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S266R			O14525	ASTN1_HUMAN	astrotactin 1	266					cell migration|neuron cell-cell adhesion	integral to membrane		p.S266R(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGTGACCTGGCTGGCAAAGT	0.597000													129	195					4.0349e-81	5.44998e-81	0.139131	1	0
SLC13A2	9058	broad.mit.edu	37	17	26822793	26822793	+	Missense_Mutation	SNP	G	G	A	rs11568476	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:26822793G>A	ENST00000444914.3	+	10	1996	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V434M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V406M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V477M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	477						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.V477M(1)|p.V526M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CACTAGCAACGTGGCCACCAC	0.632000													4	95					0	0	0.014758	0	0
CDH23	64072	broad.mit.edu	37	10	73539147	73539147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:73539147C>T	ENST00000224721.6	+	40	5331	c.5326C>T	c.(5326-5328)Cga>Tga	p.R1776*		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1771	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R1776*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCCCATGACCGAGACTCAGG	0.622000													3	40					0	0	0.009096	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:11501681C>T	ENST00000423059.3	-	10	2709	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.					integral to membrane		p.E820K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)			200	421					0	0	0.139131	0	0
HSF4	3299	broad.mit.edu	37	16	67200263	67200263	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:67200263C>G	ENST00000264009.8	+	7	1491	c.526C>G	c.(526-528)Cag>Gag	p.Q176E	HSF4_ENST00000421453.1_Missense_Mutation_p.Q176E|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000521374.1_Missense_Mutation_p.Q176E|HSF4_ENST00000584272.1_Missense_Mutation_p.Q176E	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	176	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Q176E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GACACTTCGGCAGAGCCACGG	0.637000													2	3					0	0	0.115264	0	0
RPL4	6124	broad.mit.edu	37	15	66795413	66795413	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:66795413G>C	ENST00000307961.6	-	3	357	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q89E(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AAAGCACCCTGGCCAGAGCGG	0.493000													32	67					0	0	0.064281	0	0
FAM214B	80256	broad.mit.edu	37	9	35107650	35107650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:35107650C>A	ENST00000378561.1	-	2	3677	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	FAM214B_ENST00000603301.1_Missense_Mutation_p.G208W|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208W|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208W|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208W|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208W|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208W			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									AGGCTACCCCCATTGCCCACC	0.657000													10	18					4.68919e-08	5.14007e-08	0.069234	1	0
CALCRL	10203	broad.mit.edu	37	2	188216867	188216867	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:188216867T>C	ENST00000409998.1	-	14	1883	c.1102A>G	c.(1102-1104)Atc>Gtc	p.I368V	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I368V|CALCRL_ENST00000410068.1_Missense_Mutation_p.I368V|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	368						integral to plasma membrane		p.I368V(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGTGCATGATGTAGTCATAT	0.413000													102	187					0	0	0.139131	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839787	27839787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:27839787T>A	ENST00000356790.2	+	3	609	c.364T>A	c.(364-366)Ttg>Atg	p.L122M		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	122	MAGE.							p.L122M(2)|p.L122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTGCATTACTTGCTGTACAA	0.428000													25	7					0	0	0.099896	0	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													41	93					4.00472e-15	4.52915e-15	0.139131	1	0
GRIN2A	2903	broad.mit.edu	37	16	10032335	10032335	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:10032335T>C	ENST00000396573.2	-	4	797	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAATCCTGCATGATCTT	0.498000													140	274					0	0	0.139131	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152230	151152230	+	Silent	SNP	T	T	C	rs143818607	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:151152230T>C	ENST00000367328.1	+	16	2295	c.1983T>C	c.(1981-1983)taT>taC	p.Y661Y	PLEKHG1_ENST00000358517.2_Silent_p.Y661Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	661					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y661Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACCATGTCTATGATAACATCA	0.473000													4	78					0	0	0.009096	0	0
PRPF6	24148	broad.mit.edu	37	20	62630480	62630480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:62630480G>C	ENST00000535781.1	+	7	965	c.854G>C	c.(853-855)gGa>gCa	p.G285A	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	285					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.G285A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCGACACACGGAGGAGACATC	0.502000													16	73					0	0	0.055883	0	0
CDIP1	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:4563767C>A	ENST00000399599.3	-	3	719	c.171G>T	c.(169-171)ccG>ccT	p.P57P	CDIP1_ENST00000563332.2_Silent_p.P57P|CDIP1_ENST00000563507.1_Silent_p.P57P|CDIP1_ENST00000567695.1_Silent_p.P57P|CDIP1_ENST00000564828.1_Silent_p.P22P|CDIP1_ENST00000562334.1_Intron					cell death-inducing p53 target 1									p.P57P(2)									TTGGGTGACCCGGCGGCTCAT	0.652000													11	35					5.50884e-06	5.85828e-06	0.093190	1	0
WDR89	112840	broad.mit.edu	37	14	64065716	64065716	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:64065716G>C	ENST00000394942.2	-	2	1033	c.945C>G	c.(943-945)agC>agG	p.S315R	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S315R	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	315								p.S315R(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTCCCTGAAGGCTAGTCACAT	0.438000													128	142					0	0	0.139131	0	0
KCNK18	338567	broad.mit.edu	37	10	118969655	118969655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:118969655C>G	ENST00000334549.1	+	3	1000	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423000													79	132					0	0	0.139131	0	0
CERKL	375298	broad.mit.edu	37	2	182521630	182521630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:182521630G>T	ENST00000410087.3	-	1	204	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Missense_Mutation_p.S35Y|CERKL_ENST00000339098.5_Missense_Mutation_p.S35Y|CERKL_ENST00000374970.2_Missense_Mutation_p.S35Y|CERKL_ENST00000374969.2_Missense_Mutation_p.S35Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	35					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.S35Y(4)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGCTGCGGGGACGTTAACAG	0.711000													6	9					0.0381472	0.0384168	0.038147	1	0
LRP1B	53353	broad.mit.edu	37	2	141773419	141773419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141773419G>T	ENST00000389484.3	-	13	3007	c.2036C>A	c.(2035-2037)gCc>gAc	p.A679D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCATCCAGGCCTTCTCAAT	0.408000										TSP Lung(27;0.18)			70	193					1.00246e-47	1.27546e-47	0.139131	1	0
DAND5	199699	broad.mit.edu	37	19	13084333	13084333	+	Missense_Mutation	SNP	G	G	A	rs45513495	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:13084333G>A	ENST00000317060.2	+	2	634	c.455G>A	c.(454-456)cGc>cAc	p.R152H	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	152	CTCK.					extracellular region		p.R152H(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ATGCCTGCTCGCAAGCGTTGG	0.597000													4	58					0	0	0.038147	0	0
BRINP3	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:190067177C>G	ENST00000367462.3	-	8	2503	c.2272G>C	c.(2272-2274)Gat>Cat	p.D758H	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D656H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		758						extracellular region		p.D758H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000													164	357					0	0	0.139131	0	0
TARBP1	6894	broad.mit.edu	37	1	234536951	234536951	+	Missense_Mutation	SNP	G	G	C	rs144896311	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:234536951G>C	ENST00000040877.1	-	25	4046	c.4047C>G	c.(4045-4047)caC>caG	p.H1349Q	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1349					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.H1349Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CCTTGAGTGGGTGAAATGTTG	0.358000													4	112					0	0	0.014758	0	0
LIPI	149998	broad.mit.edu	37	21	15561369	15561369	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:15561369T>C	ENST00000344577.2	-	2	506	c.481A>G	c.(481-483)Att>Gtt	p.I161V	LIPI_ENST00000536861.1_Missense_Mutation_p.I140V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	140					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I161V(2)		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)		AGATTTTTAATGTGCACACTC	0.328000													14	61					0	0	0.033300	0	0
IFNG	3458	broad.mit.edu	37	12	68549134	68549134	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:68549134T>A	ENST00000229135.3	-	4	631	c.500A>T	c.(499-501)tAa>tTa	p.*167L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	0					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.*167L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GGACAACCATTACTGGGATGC	0.363000													4	14					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6059022	6059022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:6059022G>A	ENST00000261405.5	-	51	8437	c.8183C>T	c.(8182-8184)aCt>aTt	p.T2728I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2728	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.T2728I(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCCTGGCAGTGATGTCGTT	0.537000													12	105					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	947922	947922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:947922C>T	ENST00000217260.4	-	3	400	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RSPO4_ENST00000400634.2_Missense_Mutation_p.D102N	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	102					Wnt receptor signaling pathway	extracellular region	heparin binding	p.D102N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGCAGAAGTCCTGGCTGAAG	0.602000													33	94					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310219	25310219	+	RNA	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:25310219A>T	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							GGAAAAGCTGAACAAAATGAG	0.473000													16	40					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967041	41967041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:41967041G>T	ENST00000298919.7	+	10	2068	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E820D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E562D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	820							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.E820D(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGATCAAGAGAAGGCAGTCA	0.488000													91	128					2.43828e-56	3.69437e-56	1	1	0
SULF1	23213	broad.mit.edu	37	8	70539460	70539460	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70539460C>A	ENST00000260128.4	+	16	2583	c.1866C>A	c.(1864-1866)ccC>ccA	p.P622P	SULF1_ENST00000419716.3_Silent_p.P622P|SULF1_ENST00000402687.4_Silent_p.P622P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Silent_p.P622P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.P622P(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATTCTTCCCAATGACTCTA	0.378000													14	45					4.3838e-07	4.98159e-07	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151259952	151259952	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:151259952G>A	ENST00000368879.2	+	2	1283	c.1185G>A	c.(1183-1185)agG>agA	p.R395R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.R395R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGTACAAGGCTGAAAGGCA	0.597000													29	78					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953319	30953319	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:30953319G>T	ENST00000597505.1	-	20	2895	c.2897_splice	c.e20+1	p.Q966_splice	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Splice_Site_p.Q45_splice			P59894	DCDC1_HUMAN	doublecortin domain containing 1	201					intracellular signal transduction			p.Q45K(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTCTTACTGCGTTTTCCGT	0.363000													4	1					0.00909568	0.00928131	1	1	0
OR1D5	8386	broad.mit.edu	37	17	2966252	2966252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:2966252G>A	ENST00000575751.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217F(4)|p.S217Y(2)		kidney(1)|lung(10)	11						ACGTACATAGGATGTGGTCAT	0.507000													12	13					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135100	11135100	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:11135100G>C	ENST00000358026.2	+	21	3351	c.3067G>C	c.(3067-3069)Gag>Cag	p.E1023Q	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1023Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1023					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1023Q(4)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATGGCTCCGAGAAGGACAA	0.632000			"""F, N, Mis"""		NSCLC								22	20					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392740	1392740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:1392740G>T	ENST00000324385.5	+	13	1349	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	BAIAP3_ENST00000397488.2_Missense_Mutation_p.Q379H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.Q362H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.Q379H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.Q339H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.Q326H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.Q334H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	397					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.Q397H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCATGAGCCAGCGCGGGCGAT	0.667000													11	40					3.07112e-06	3.41235e-06	1	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111642213	111642213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:111642213C>A	ENST00000369680.4	-	10	1137	c.889G>T	c.(889-891)Gct>Tct	p.A297S	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A340S|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.A340S|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A226S	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.A297S(2)|p.A340S(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGCTCACAGCATAGCTGGCC	0.577000													29	155					9.78306e-22	1.36635e-21	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682886	53682886	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:53682886T>C	ENST00000262135.4	-	16	2387	c.2294A>G	c.(2293-2295)cAt>cGt	p.H765R	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H765R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	765					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.H765R(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGACTGCATATGCTCTGGCCC	0.353000													35	51					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93089858	93089858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:93089858C>A	ENST00000370331.1	-	14	1663	c.1654G>T	c.(1654-1656)Gac>Tac	p.D552Y	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.D552Y|EVI5_ENST00000543509.1_Missense_Mutation_p.D563Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	552	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.D552Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTGGGTGGGTCTTTCCATCTC	0.353000													6	40					8.12818e-05	8.72123e-05	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949602	17949602	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:17949602A>T	ENST00000361221.3	+	12	1291	c.1132A>T	c.(1132-1134)Atc>Ttc	p.I378F	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I378F|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I136F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	378	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.I378F(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CATGTTCCAGATCGCCCTGTC	0.622000													40	54					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459557	105459557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:105459557C>A	ENST00000351513.2	-	3	730	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	200					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.A200S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCTCTGCAATTAAGTCT	0.453000													10	30					0.000442599	0.000466877	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259805	90259805	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:90259805G>T	ENST00000471857.1	+	0	213																											CAGCTCCTGGGGCTCCTGCTG	0.542000													35	220					1.49673e-21	2.0788e-21	1	1	0
STK11	6794	broad.mit.edu	37	19	1220629	1220629	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:1220629C>T	ENST00000326873.7	+	5	1820	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	216	Protein kinase.		S -> F (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.S216F(3)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGGGCTCCCCGGCTTTC	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	3					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868922	51868922	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:51868922T>A	ENST00000453097.2	+	16	2321	c.2104T>A	c.(2104-2106)Ttt>Att	p.F702I	SLC4A8_ENST00000394856.1_Missense_Mutation_p.F649I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.F649I|SLC4A8_ENST00000358657.3_Missense_Mutation_p.F729I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	702					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F702I(4)|p.F649I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTATTCTCTTTTTCACCAC	0.483000													14	82					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636980	248636980	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248636980T>G	ENST00000359594.2	+	1	354	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110R(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTTCTACCTGACCCTGGCT	0.542000													56	112					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113521	59113521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:59113521C>A	ENST00000395153.3	+	4	2216	c.2069C>A	c.(2068-2070)tCg>tAg	p.S690*	DACT1_ENST00000395151.3_Nonsense_Mutation_p.S446*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.S446*|DACT1_ENST00000556859.1_Nonsense_Mutation_p.S446*|DACT1_ENST00000335867.4_Nonsense_Mutation_p.S727*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	727					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S727*(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCGAGTACTCGGCCGAGTGC	0.662000													51	46					3.31993e-32	4.82547e-32	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880668	237880668	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:237880668G>A	ENST00000366574.2	+	72	10811	c.10494_splice	c.e72+1	p.L3498_splice	RYR2_ENST00000360064.6_Splice_Site_p.L3496_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3482_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3498					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L3496L(2)		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)			GATTTAGCCTGGTAAGTCTCC	0.478000													6	19					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404945	128404945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:128404945G>C	ENST00000368227.3	-	9	1856	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	PTPRK_ENST00000368215.3_Missense_Mutation_p.S497C|PTPRK_ENST00000368207.3_Missense_Mutation_p.S497C|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S497C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Missense_Mutation_p.S497C|PTPRK_ENST00000532331.1_Missense_Mutation_p.S497C|PTPRK_ENST00000368213.5_Missense_Mutation_p.S497C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	497	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S497C(2)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCTTGAAGAGATTTTACTGG	0.338000													4	18					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799788	41799788	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:41799788G>A	ENST00000263800.6	-	10	1413	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	LTK_ENST00000355166.5_Silent_p.L378L|LTK_ENST00000453182.2_Silent_p.L378L|LTK_ENST00000561619.1_Silent_p.L121L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	439					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L439L(2)|p.L378L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACACCATAAGGAGGCTCAGTG	0.577000										TSP Lung(18;0.14)			23	12					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953812	161953812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:161953812G>T	ENST00000294794.3	-	8	2329	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.L637M|OLFML2B_ENST00000367938.1_Missense_Mutation_p.L119M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	636	Olfactomedin-like.							p.L636M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATCGTCCAGGGCCGGGTAG	0.632000													24	64					4.87955e-14	6.28809e-14	1	1	0
ZNF438	220929	broad.mit.edu	37	10	31137569	31137569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:31137569C>T	ENST00000538351.1	-	7	2372	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	ZNF438_ENST00000413025.1_Missense_Mutation_p.V589M|ZNF438_ENST00000444692.2_Missense_Mutation_p.V579M|ZNF438_ENST00000361310.3_Missense_Mutation_p.V589M|ZNF438_ENST00000442986.1_Missense_Mutation_p.V589M|ZNF438_ENST00000375311.1_Missense_Mutation_p.V153M|ZNF438_ENST00000331737.6_Missense_Mutation_p.V579M|ZNF438_ENST00000436087.2_Missense_Mutation_p.V589M|ZNF438_ENST00000452305.1_Missense_Mutation_p.V579M	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V589M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACCCTATGCACTTCTTTCAGA	0.488000													87	63					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:57829576C>T	ENST00000371030.2	+	5	4812	c.4812C>T	c.(4810-4812)ccC>ccT	p.P1604P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604						intracellular	nucleic acid binding|zinc ion binding	p.P1604P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACTGTCCCCTGCCCCTCTT	0.493000													24	139					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	C	rs147799875		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:190067891G>C	ENST00000367462.3	-	8	1789	c.1558C>G	c.(1558-1560)Cgc>Ggc	p.R520G	FAM5C_ENST00000534846.1_Missense_Mutation_p.R418G|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		520						extracellular region		p.R520G(2)|p.R520S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTATTGAGGCGCATGTCATTG	0.453000													60	94					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113254006	113254006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:113254006T>A	ENST00000297405.5	-	66	10655	c.10411A>T	c.(10411-10413)Aaa>Taa	p.K3471*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K3302*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K3401*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K3431*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3471						integral to membrane|plasma membrane		p.K3471*(2)|p.K3431*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAATATTTTAGAACCAGCT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	30					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96330222	96330222	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:96330222G>C	ENST00000324765.8	+	19	2556	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E733Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E737Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	737	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.E737Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTTATTCTGGAGGTTAATGA	0.313000													13	5					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763566	77763566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:77763566G>T	ENST00000521891.2	+	10	4857	c.4409G>T	c.(4408-4410)tGg>tTg	p.W1470L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1425L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1425L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1444L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1470L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAACTGTGGGCAGAGAGC	0.502000										HNSCC(33;0.089)			12	35					2.27111e-07	2.59259e-07	1	1	0
RGS6	9628	broad.mit.edu	37	14	72945023	72945023	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:72945023C>G	ENST00000553530.1	+	12	1047	c.840C>G	c.(838-840)tcC>tcG	p.S280S	RGS6_ENST00000407322.4_Silent_p.S280S|RGS6_ENST00000554782.1_Silent_p.S141S|RGS6_ENST00000556437.1_Silent_p.S280S|RGS6_ENST00000355512.6_Silent_p.S280S|RGS6_ENST00000434263.2_Silent_p.S211S|RGS6_ENST00000404301.2_Silent_p.S280S|RGS6_ENST00000402788.2_Silent_p.S280S|RGS6_ENST00000406236.4_Silent_p.S280S|RGS6_ENST00000343854.6_Silent_p.S280S|RGS6_ENST00000553525.1_Silent_p.S280S|RGS6_ENST00000555571.1_Silent_p.S280S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	280	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.S280S(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGAAAATGTCCAAAGTGGCTG	0.318000													3	12					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15569349	15569349	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:15569349A>G	ENST00000424120.1	+	26	3592	c.3338A>G	c.(3337-3339)cAt>cGt	p.H1113R	CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1113R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1113R|CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1064R			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1113	C2.				cell projection organization	cilium|microtubule basal body		p.H1113R(2)|p.H1064R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACAGTTTGCCATACGACTACG	0.363000													6	15					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96416742	96416742	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:96416742C>G	ENST00000359246.4	+	7	1204	c.837C>G	c.(835-837)tcC>tcG	p.S279S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	279	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S279S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAACATCTCCCTGTATGAGC	0.602000													27	18					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603806	10603806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:10603806G>T	ENST00000334534.5	+	8	1186	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.A336S(2)									GGTTTTGCCAGCTTCAGAGTT	0.443000													37	62					6.90743e-12	8.3423e-12	1	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169943	20169943	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:20169943G>T	ENST00000338912.5	-	0	328																		p.T110K(2)									ATACATGGCCGTGTCCTCAGA	0.517000													29	241					2.85442e-18	3.85732e-18	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112482	248112482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248112482G>T	ENST00000357191.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCATTAGGAGGTGCAGAAGCA	0.438000													19	212					8.00594e-06	8.85613e-06	1	1	0
KRT79	338785	broad.mit.edu	37	12	53223860	53223860	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:53223860T>C	ENST00000330553.5	-	4	836	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	268	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.K268E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGCCCACTTTGCCATGCAGA	0.552000													18	88					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:159163801G>C	ENST00000368125.4	+	5	819	c.662G>C	c.(661-663)aGa>aCa	p.R221T	CADM3_ENST00000368124.4_Missense_Mutation_p.R255T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000													18	34					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499310	65499310	+	Silent	SNP	G	G	A	rs146845325		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:65499310G>A	ENST00000261883.4	-	4	400	c.234C>T	c.(232-234)cgC>cgT	p.R78R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R78R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATAGTAGAAGCGAATGGCGT	0.602000													5	38					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168849	90168849	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:90168849T>A	ENST00000268138.7	+	20	5413	c.5308T>A	c.(5308-5310)Ttg>Atg	p.L1770M	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.L1769M					TOPBP1-interacting checkpoint and replication regulator									p.L1770M(2)									ACAGTTTGGGTTGAGTTCCAG	0.537000													35	76					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019010	193019010	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:193019010A>T	ENST00000342358.4	-	24	2882	c.2765T>A	c.(2764-2766)cTg>cAg	p.L922Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	922					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L922Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAATAGAGCAGTAATGCACT	0.353000													44	45					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195622	17195622	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:17195622T>C	ENST00000377799.3	-	10	1006	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.Y274C|TRDMT1_ENST00000457442.2_Missense_Mutation_p.Y239C|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.Y296C|TRDMT1_ENST00000488990.1_Missense_Mutation_p.Y197C	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	320					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.Y320C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAGGGATTTGTAGATATTCTC	0.338000													7	10					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46345933	46345933	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:46345933C>A	ENST00000339464.4	-	2	539	c.165G>T	c.(163-165)cgG>cgT	p.R55R	WNT7B_ENST00000410058.1_Silent_p.R55R|WNT7B_ENST00000410089.1_Silent_p.R39R|WNT7B_ENST00000409496.3_Silent_p.R59R	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	55					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.R55R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCATCGGGCCGACTCTGGC	0.627000													15	46					1.37285e-15	1.77831e-15	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85991733	85991733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:85991733G>A	ENST00000372105.3	-	4	1843	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	608						integral to endoplasmic reticulum membrane		p.Q608*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCAAAGGCCTGAAAGTCCACA	0.572000													9	40					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849412	29849412	+	Splice_Site	SNP	C	C	T	rs140513474		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:29849412C>T	ENST00000325874.8	+	7	1157	c.929_splice	c.e7+1	p.R310_splice	RAB11FIP4_ENST00000394744.2_Splice_Site_p.R208_splice	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	310	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGCCTTTGGACGGTAAGGCCC	0.607000													5	142					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224306	248224306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:248224306G>T	ENST00000359959.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCATTAGGAGGTGCAGAAGCA	0.438000													44	62					1.15181e-12	1.4326e-12	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	97					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956665	16956665	+	RNA	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:16956665C>A	ENST00000412962.1	-	0	294																											CAGAGTCTAGCGGGGGTCCTT	0.637000													3	50					6.4e-05	6.89655e-05	1	1	0
GEM	2669	broad.mit.edu	37	8	95265333	95265333	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:95265333T>C	ENST00000297596.2	-	3	603	c.339A>G	c.(337-339)acA>acG	p.T113T	GEM_ENST00000396194.2_Silent_p.T113T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	113					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.T113T(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTCGTTCATATGTATCTTCTA	0.403000													26	68					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597207	18597207	+	RNA	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:18597207C>G	ENST00000546162.2	+	0	947					NR_003569.1																						CTCAGAAGAACTTGTTTCCCG	0.557000													14	141					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55721652C>A	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G957*(4)|p.G962*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			10	15					2.17888e-05	2.36834e-05	1	1	0
SEC23B	10483	broad.mit.edu	37	20	18523047	18523047	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:18523047G>A	ENST00000336714.3	+	13	1943		c.e13+1		SEC23B_ENST00000262544.2_Splice_Site|SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCGCCCGAAAGTAAGCAGCCC	0.488000													100	168					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:154516513G>T	ENST00000368482.4	+	9	1416	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R193L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	193							nucleotide binding|RNA binding	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617000													80	125					1.47272e-24	2.09193e-24	1	1	0
LUC7L	55692	broad.mit.edu	37	16	242974	242974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:242974C>T	ENST00000337351.4	-	7	851	c.728G>A	c.(727-729)cGc>cAc	p.R243H	LUC7L_ENST00000293872.8_Missense_Mutation_p.R243H|LUC7L_ENST00000397780.1_Missense_Mutation_p.R190H|LUC7L_ENST00000397783.1_Missense_Mutation_p.R243H	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	243	Arg/Ser-rich.						metal ion binding	p.R243H(4)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCTCAAGCGATCCTGATT	0.507000													79	173					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998942	100998942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:100998942G>T	ENST00000325455.5	-	1	2313	c.860C>A	c.(859-861)gCg>gAg	p.A287E	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A287E	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	287	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.A287E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGCCATCGGCGCGTCCTGCTC	0.697000													48	12					3.73128e-16	4.88388e-16	1	1	0
DLL3	10683	broad.mit.edu	37	19	39991296	39991296	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:39991296A>T	ENST00000205143.4	+	3	400	c.393A>T	c.(391-393)ttA>ttT	p.L131F	DLL3_ENST00000356433.5_Missense_Mutation_p.L131F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	131					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.L131F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAGGAGTTAGGAGACCAGA	0.517000													27	14					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631306	32631306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:32631306G>T	ENST00000242310.4	-	1	4361	c.4272C>A	c.(4270-4272)ttC>ttA	p.F1424L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1424	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.F1424L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGGAGTGTGGAAAGGGTGTG	0.473000													81	50					3.9908e-21	5.51215e-21	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699878	136699878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:136699878G>C	ENST00000445907.2	+	3	794	c.266G>C	c.(265-267)tGg>tCg	p.W89S	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.W89S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.W89S|CHRM2_ENST00000320658.5_Missense_Mutation_p.W89S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	89					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.W89S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGGTTACTGGCCTTTGGGA	0.463000													38	72					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:39869182G>C	ENST00000538976.1	+	24	3095	c.2913G>C	c.(2911-2913)cgG>cgC	p.R971R	DAAM2_ENST00000274867.4_Silent_p.R972R|DAAM2_ENST00000398904.2_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607000													38	77					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574915	82574915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:82574915G>T	ENST00000339465.5	+	3	778	c.709G>T	c.(709-711)Gag>Tag	p.E237*	FAM154B_ENST00000427381.2_Nonsense_Mutation_p.E222*|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	237								p.E237*(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAAGTACCAGAGTATGTGCC	0.473000													7	55					2.0095e-06	2.24274e-06	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821395	151821395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:151821395A>T	ENST00000370306.2	+	9	1570	c.1550A>T	c.(1549-1551)aAg>aTg	p.K517M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.K517M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTGGGAAGCCCATGCTT	0.547000													65	67					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115965313	115965313	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:115965313A>G	ENST00000238256.3	-	5	444	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	109	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding	p.Y134Y(2)|p.Y109Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAGAATCCTATACTGTAGAC	0.328000													5	3					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140070879	140070879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:140070879C>A	ENST00000504156.1	-	1	730	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HARS_ENST00000415192.2_Missense_Mutation_p.R4L|HARS_ENST00000431330.2_Missense_Mutation_p.R4L|HARS_ENST00000457527.2_Missense_Mutation_p.R4L|HARS_ENST00000307633.3_Missense_Mutation_p.R4L|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000438307.2_Missense_Mutation_p.R4L	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	4	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.R4L(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCGCCGCACGCTCTGCCAT	0.652000													16	7					4.14922e-12	5.06002e-12	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244272	42244272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:42244272C>A	ENST00000449246.1	+	12	1851	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGCCCCTCTCTGTCCTCCTG	0.647000													17	24					1.15088e-07	1.31981e-07	1	1	0
ACTN2	88	broad.mit.edu	37	1	236925779	236925779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:236925779G>A	ENST00000366578.4	+	21	2711	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E849K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E343K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	849					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.E849K(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGCGGAGGAGCTGCGTCG	0.537000													23	56					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038767	11038767	+	RNA	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:11038767A>C	ENST00000470054.1	-	0	1436									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTCTCTTAGTAATAGCTG	0.378000													9	60					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899948	128899948	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:128899948C>A	ENST00000435159.2	+	2	757	c.757C>A	c.(757-759)Cgt>Agt	p.R253S		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	253						integral to membrane		p.R253S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAACGCCATCCGTCCAGGAAA	0.662000													4	5					0.150653	0.151258	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11633039	11633039	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:11633039G>T	ENST00000423059.3	-	3	1364	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	371	TSP type-1 3.					integral to membrane		p.P371P(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTTGAGCAGGGGCTCCACT	0.517000										HNSCC(18;0.044)			23	55					0.000229342	0.000245023	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:50659489G>T	ENST00000252677.3	+	2	1061	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R354L(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGTGTCCCCCGGCCCTCCTGT	0.463000													32	11					9.65021e-13	1.20628e-12	1	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26204930	26204930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:26204930C>A	ENST00000360441.4	+	1	73	c.58C>A	c.(58-60)Cgt>Agt	p.R20S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R20S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TAAGCGTCACCGTAAGGTCCT	0.547000													26	110					7.88262e-20	1.07686e-19	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130292827	130292827	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:130292827T>A	ENST00000358511.6	+	7	3036	c.3005T>A	c.(3004-3006)gTt>gAt	p.V1002D	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1002D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1002	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.V1002D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGATCTTGTTTTCCTTATG	0.358000													18	18					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006275	44006275	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:44006275T>A	ENST00000292140.5	-	3	734	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	PHLDB3_ENST00000599242.1_Missense_Mutation_p.Q125L	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	125								p.Q125L(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCTTCCTCTGGCGCTGTAG	0.652000													3	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600341	179600341	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:179600341T>A	ENST00000589042.1	-	50	15056	c.14832A>T	c.(14830-14832)acA>acT	p.T4944T	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3700T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T4627T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4627	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T3700T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCAAGTGTTGCTATTT	0.433000													12	20					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495340	64495340	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:64495340T>C	ENST00000303052.7	-	10	1471	c.1048A>G	c.(1048-1050)Act>Gct	p.T350A	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T350A|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T350A|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T332A	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	350					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T350A(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTTCTCGAGTTATTGCAGAT	0.453000													41	15					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149140	73149140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:73149140C>T	ENST00000286657.4	-	22	3367	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.G1111S(2)		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)			GCATTTGGACCTCCCACTGAA	0.463000													15	99					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20968951	20968951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:20968951C>A	ENST00000298925.5	+	12	1378	c.1225C>A	c.(1225-1227)Cct>Act	p.P409T	NELL1_ENST00000357134.5_Missense_Mutation_p.P381T|NELL1_ENST00000532434.1_Missense_Mutation_p.P381T|NELL1_ENST00000325319.5_Missense_Mutation_p.P324T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	381	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.P381T(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCACATTCTTCCTGAGAATCA	0.473000													40	18					1.41851e-31	2.04987e-31	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103287	65103287	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:65103287C>T	ENST00000358691.5	-	31	5405	c.5239G>A	c.(5239-5241)Gag>Aag	p.E1747K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1748K	NM_014877.3	NP_055692.2			helicase with zinc finger									p.E1747K(2)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACATTTACCTCTTCTAAGCTA	0.328000													42	46					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333729	25333729	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:25333729G>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TCTGAAGCACGCCTGTGTTAA	0.547000													4	3					0.000602214	0.000627307	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23810997	23810997	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:23810997C>T	ENST00000314520.3	+	1	544	c.68C>T	c.(67-69)gCa>gTa	p.A23V	MKRN3_ENST00000568252.1_Missense_Mutation_p.A23V|MKRN3_ENST00000564592.1_Missense_Mutation_p.A23V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	23						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A23V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTGAGGCAGCAAGGGAGGGT	0.667000													38	33					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599727	3599727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:3599727A>T	ENST00000302006.3	+	2	717	c.665A>T	c.(664-666)gAg>gTg	p.E222V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E222V(2)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACGACGAGGAGATCGACCTG	0.632000													7	60					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729639	15729639	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:15729639C>T	ENST00000396368.3	-	3	911	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIAA0430_ENST00000540441.2_Silent_p.G235G|KIAA0430_ENST00000344181.3_Silent_p.G57G|KIAA0430_ENST00000602337.1_Silent_p.G235G|KIAA0430_ENST00000551742.1_Silent_p.G235G|KIAA0430_ENST00000548025.1_Silent_p.G235G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	234						peroxisome	nucleotide binding|RNA binding	p.G235G(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTCCAAATGCCCTGGAGCCC	0.522000													28	45					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874285	155874285	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:155874285A>C	ENST00000368323.3	-	5	450	c.246T>G	c.(244-246)ttT>ttG	p.F82L	RIT1_ENST00000368322.3_Missense_Mutation_p.F99L|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.F46L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	82					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.F82L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGCTGTAAACTCTGCCT	0.423000													17	24					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267478	71267478	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:71267478C>A	ENST00000554752.2	-	2	725	c.726G>T	c.(724-726)ctG>ctT	p.L242L	MAP3K9_ENST00000381250.4_Silent_p.L242L|MAP3K9_ENST00000555993.2_Silent_p.L242L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	242	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.L242L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCAATTCACCAGGATGTCTG	0.493000													26	76					4.26978e-12	5.18177e-12	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12761005	12761005	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:12761005A>C	ENST00000456935.2	-	17	2118	c.2078T>G	c.(2077-2079)tTc>tGc	p.F693C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.F692C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	693					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.F693C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGCTGAGAAGTTCTGGTG	0.612000													101	44					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915812	26915812	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:26915812T>C	ENST00000231021.4	-	3	621	c.449A>G	c.(448-450)cAt>cGt	p.H150R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	150	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H150R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGATATCATGTATTTTAAT	0.388000													27	39					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561369	15561369	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:15561369T>C	ENST00000344577.2	-	2	506	c.481A>G	c.(481-483)Att>Gtt	p.I161V	LIPI_ENST00000536861.1_Missense_Mutation_p.I140V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	140					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I161V(2)		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)		AGATTTTTAATGTGCACACTC	0.328000													4	18					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412214	178412214	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:178412214G>T	ENST00000448150.3	+	8	2096	c.1278G>T	c.(1276-1278)ctG>ctT	p.L426L	RASAL2_ENST00000462775.1_Silent_p.L296L|RASAL2_ENST00000367649.3_Silent_p.L444L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	296	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L426L(2)|p.L296L(2)|p.L444L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCACCATTCTGCCTATGGAGC	0.413000													10	29					4.68919e-08	5.4273e-08	1	1	0
BBS7	55212	broad.mit.edu	37	4	122782798	122782798	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:122782798T>A	ENST00000264499.4	-	4	385	c.202A>T	c.(202-204)Agg>Tgg	p.R68W	BBS7_ENST00000506636.1_Missense_Mutation_p.R68W	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	68					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R68W(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCCAGCCTTGCAATCTTC	0.398000									Bardet-Biedl syndrome				9	7					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275347	71275347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:71275347G>T	ENST00000399575.2	+	3	476	c.302G>T	c.(301-303)gGt>gTt	p.G101V	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCTTTCCGGGTTATCCAAAC	0.403000													76	116					1.31311e-47	1.96573e-47	1	1	0
PCNX	22990	broad.mit.edu	37	14	71444881	71444881	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:71444881T>C	ENST00000304743.2	+	6	2273	c.1827T>C	c.(1825-1827)agT>agC	p.S609S	PCNX_ENST00000439984.3_Silent_p.S609S|PCNX_ENST00000238570.5_Silent_p.S609S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	609	Ser-rich.					integral to membrane		p.S609S(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGACTTGAGTAGAGCATCAA	0.473000													38	36					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289671	18289671	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:18289671T>C	ENST00000377369.2	+	11	1949	c.1676T>C	c.(1675-1677)aTa>aCa	p.I559T	SLC39A12_ENST00000377371.3_Missense_Mutation_p.I558T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.I425T|SLC39A12_ENST00000377374.4_Missense_Mutation_p.I522T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	559					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.I522T(2)		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						GGCCTAGCCATAGGAGCAGCC	0.438000													24	38					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456009	65456009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:65456009G>T	ENST00000330909.8	-	5	907	c.908C>A	c.(907-909)cCt>cAt	p.P303H	MAGI1_ENST00000402939.2_Missense_Mutation_p.P303H|MAGI1_ENST00000483466.1_Missense_Mutation_p.P303H|MAGI1_ENST00000497477.2_Missense_Mutation_p.P303H|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	303	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P303H(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTTTTCAGGTAGAGGACC	0.413000													18	9					1.64113e-05	1.79163e-05	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862789	10862789	+	RNA	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:10862789G>C	ENST00000559480.1	+	0	85																		p.E29*(1)|p.E29Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCTGGGGCTGAGGTGAAGAA	0.562000													25	295					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814179	60814179	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:60814179A>C	ENST00000544856.2	-	7	1425	c.1047T>G	c.(1045-1047)agT>agG	p.S349R	MARCH10_ENST00000311269.5_Missense_Mutation_p.S350R|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.S388R|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S350R			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	350							ligase activity|zinc ion binding	p.S350R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGAGCCATGACTGGGCTCAC	0.483000													53	155					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609691	158609691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:158609691C>A	ENST00000368148.3	-	34	5024	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1615I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1615					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1615I(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCCGGATGCTTGTGTTGAA	0.448000													40	68					4.00102e-26	5.74859e-26	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178310735	178310735	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:178310735A>G	ENST00000462775.1	+	1	130	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	RASAL2_ENST00000367649.3_Intron|RASAL2_ENST00000448150.3_Intron	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	2					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.Q2R(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CACACGATGCAGACCCCAGGT	0.428000													5	21					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75881899	75881899	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:75881899C>T	ENST00000393909.2	+	5	538	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MRPL19_ENST00000409374.1_Silent_p.V171V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	171					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.V171V(2)		kidney(1)|large_intestine(1)|lung(6)	8						ATCCTCGGGTCCAGGAGATTC	0.378000													7	41					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755587	77755587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:77755587G>A	ENST00000310942.4	+	4	379	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CBX2_ENST00000269399.5_Missense_Mutation_p.R92H	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	92	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R92H(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCAGCCGGCGCTCCAAGCTC	0.657000													26	72					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779384	229779384	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:229779384A>T	ENST00000258243.2	+	5	3875	c.3739A>T	c.(3739-3741)Atg>Ttg	p.M1247L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1247						nucleolus		p.M1247L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGGCTGGTGATGCAGTGTAT	0.512000													48	101					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752748	49752748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:49752748C>A	ENST00000492622.2	+	14	1880	c.1575C>A	c.(1573-1575)taC>taA	p.Y525*	FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Y525*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Y469*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	525	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.Y525*(2)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCTTGCTTACACAGTGAAAA	0.343000													17	15					1.02788e-11	1.22953e-11	1	1	0
MYLK	4638	broad.mit.edu	37	3	123375980	123375980	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:123375980T>C	ENST00000360772.3	-	25	4659	c.4281A>G	c.(4279-4281)aaA>aaG	p.K1427K	MYLK_ENST00000360304.3_Silent_p.K1427K|MYLK_ENST00000354792.5_Silent_p.K227K|MYLK_ENST00000346322.5_Silent_p.K1358K|MYLK_ENST00000475616.1_Silent_p.K1427K|MYLK_ENST00000359169.1_Silent_p.K1427K			Q15746	MYLK_HUMAN	myosin light chain kinase	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K1427K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCTTCAGGTTTCTCTCCTA	0.478000													39	44					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032335	10032335	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:10032335T>C	ENST00000396573.2	-	4	797	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAATCCTGCATGATCTT	0.498000													47	88					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92526040	92526040	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:92526040G>A	ENST00000298047.6	+	8	4736	c.4719G>A	c.(4717-4719)gcG>gcA	p.A1573A	FAT3_ENST00000525166.1_Silent_p.A1423A|FAT3_ENST00000409404.2_Silent_p.A1573A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1573A(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATGAAGCGTCTGTGTTTG	0.438000										TCGA Ovarian(4;0.039)			16	105					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773418	141773418	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141773418G>T	ENST00000389484.3	-	13	3008	c.2037C>A	c.(2035-2037)gcC>gcA	p.A679A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATCCAGGCCTTCTCAA	0.413000										TSP Lung(27;0.18)			24	49					1.17739e-12	1.45717e-12	1	1	0
HEATR3	55027	broad.mit.edu	37	16	50134194	50134194	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:50134194T>G	ENST00000299192.7	+	13	1844	c.1653T>G	c.(1651-1653)agT>agG	p.S551R	HEATR3_ENST00000285767.4_Missense_Mutation_p.S465R	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	551							binding	p.S551R(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCATAGTAGTAATGTCGGGG	0.378000													20	40					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15497370	15497370	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:15497370G>T	ENST00000341776.2	+	7	2158	c.1914G>T	c.(1912-1914)caG>caT	p.Q638H	JARID2_ENST00000397311.3_Missense_Mutation_p.Q466H|JARID2_ENST00000541660.1_Missense_Mutation_p.Q600H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	638	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.Q638H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCAAATCTCAGGGCATCACCA	0.647000													4	7					0.150653	0.151258	1	1	0
ALDH7A1	501	broad.mit.edu	37	5	125912853	125912853	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:125912853T>A	ENST00000409134.3	-	6	787	c.568A>T	c.(568-570)Atc>Ttc	p.I190F	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I217F|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I190F|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	190					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.I162F(2)|p.I217F(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GCCGTGATGATTCCAACCAGG	0.483000													24	16					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825245	43825245	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:43825245T>G	ENST00000389420.3	-	22	3150	c.3151A>C	c.(3151-3153)Aat>Cat	p.N1051H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N205H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1051H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1051	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding	p.N1051H(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGATCTACATTCAGCTGACAC	0.413000													17	54					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106632981	106632981	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:106632981T>C	ENST00000378026.4	-	2	1766	c.1630A>G	c.(1630-1632)Agc>Ggc	p.S544G		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	544						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S544G(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCACTTGGCTGACTGAGGCT	0.532000													54	76					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032336	10032336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:10032336G>T	ENST00000396573.2	-	4	796	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6K|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAATCCTGCATGATCTTC	0.498000													46	86					9.82405e-12	1.18078e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			31	15					7.68411e-24	1.08533e-23	1	1	0
AKT3	10000	broad.mit.edu	37	1	243809209	243809209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:243809209G>A	ENST00000366539.1	-	5	615	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	AKT3_ENST00000336199.5_Missense_Mutation_p.H139Y|AKT3_ENST00000366540.1_Missense_Mutation_p.H139Y|AKT3_ENST00000263826.5_Missense_Mutation_p.H139Y			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	139					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.H139Y(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTTTATGATGGGTTGTAGAG	0.378000													12	26					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910104	910104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:910104C>A	ENST00000316157.3	-	3	288	c.248G>T	c.(247-249)tGg>tTg	p.W83L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CACCTCCTCCCATGCAGCACT	0.592000													27	14					1.08312e-15	1.41031e-15	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588136	204588136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:204588136G>A	ENST00000367175.1	-	1	3197	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	LRRN2_ENST00000367177.3_Missense_Mutation_p.R329C|LRRN2_ENST00000367176.3_Missense_Mutation_p.R329C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion	integral to membrane	receptor activity	p.R329C(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGAAGGCGCGGGGGTGGATG	0.607000													18	76					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44057085	44057085	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:44057085G>A	ENST00000359947.4	+	9	1732	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	PTPRF_ENST00000438120.1_Silent_p.K464K|PTPRF_ENST00000372413.3_Silent_p.K464K|PTPRF_ENST00000372414.3_Silent_p.K464K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	464	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.K454K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGCACAAGCACAACACCG	0.697000													5	11					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30804833	30804833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:30804833A>G	ENST00000383096.3	-	17	1906	c.1724T>C	c.(1723-1725)aTa>aCa	p.I575T	CCDC178_ENST00000583930.1_Missense_Mutation_p.I575T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I575T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I575T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I575T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I575T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.I575T					coiled-coil domain containing 178									p.I575T(4)									CATGGCACATATTGCTCTATT	0.378000													9	15					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955474	55955474	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55955474C>G	ENST00000373965.2	-	11	1668	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	PCDH15_ENST00000395433.1_Missense_Mutation_p.R403T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R388T|PCDH15_ENST00000373957.3_Missense_Mutation_p.R403T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395446.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395430.1_Missense_Mutation_p.R425T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R425T|PCDH15_ENST00000395440.1_Missense_Mutation_p.R425T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R425T|PCDH15_ENST00000320301.6_Missense_Mutation_p.R425T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R425T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R430T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R29T|PCDH15_ENST00000395438.1_Missense_Mutation_p.R425T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R430T(4)|p.R425T(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTACTATTCTTAAAGGTGA	0.368000										HNSCC(58;0.16)			11	61					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186244912	186244912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:186244912A>T	ENST00000504273.1	+	9	1509	c.1215A>T	c.(1213-1215)gaA>gaT	p.E405D	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E405D			Q9H3E2	SNX25_HUMAN	sorting nexin 25	405					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E405D(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAAAAGAGGAAGAAAAACATG	0.338000													5	12					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920368	113920368	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:113920368T>C	ENST00000348367.4	-	16	1950	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	GPAM_ENST00000423155.1_Missense_Mutation_p.I585V|GPAM_ENST00000369425.1_Missense_Mutation_p.I585V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	585					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.I585V(2)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ATACCTATGATGGCCTCCATG	0.393000													19	45					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255663	70255663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:70255663G>A	ENST00000342771.4	+	19	3782	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1130H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1154	His-rich.							p.R1154H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCGGGAGCGCTTGCACATG	0.692000													7	59					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55364093	55364093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:55364093C>A	ENST00000398661.2	-	7	768	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.V151L|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.V183L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	213							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.V213L(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACAAGACACATACCTAAAT	0.323000													5	20					0.000602214	0.000627307	1	1	0
TXNDC11	51061	broad.mit.edu	37	16	11827847	11827847	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:11827847T>C	ENST00000356957.3	-	3	667	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.Y187C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	187	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.Y187C(2)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCCGATGATACAGATATAT	0.333000													13	17					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188680	57188680	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:57188680A>G	ENST00000331162.4	-	5	712	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C148R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGACAAACATTGGTTAACT	0.308000													24	25					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66618624	66618624	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:66618624T>C	ENST00000393960.1	-	17	2391	c.2110A>G	c.(2110-2112)Atc>Gtc	p.I704V	PC_ENST00000393955.2_Missense_Mutation_p.I704V|PC_ENST00000393958.2_Missense_Mutation_p.I704V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	704	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.I704V(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGTATGAGATGGCAGCCTCC	0.612000													59	17					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349754	30349754	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:30349754G>T	ENST00000359358.4	-	2	1239	c.801C>A	c.(799-801)gcC>gcA	p.A267A	KLHL14_ENST00000358095.4_Silent_p.A267A	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	267	BACK.					cytosol|endoplasmic reticulum membrane		p.A267A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCGGGATGAGGGCGAAGCGGA	0.652000													20	39					4.35082e-09	5.05909e-09	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:226924682C>A	ENST00000429204.1	-	2	805	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	ITPKB_ENST00000272117.3_Missense_Mutation_p.A160S|ITPKB_ENST00000366784.1_Missense_Mutation_p.A160S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A160S(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652000													70	141					7.91278e-47	1.1775e-46	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969656	118969656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:118969656C>T	ENST00000334549.1	+	3	1001	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTAGAACACCCTAACTTCTTC	0.418000													41	103					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544261	103544261	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:103544261G>T	ENST00000358392.2	-	3	758	c.441C>A	c.(439-441)gcC>gcA	p.A147A	COL11A1_ENST00000353414.4_Silent_p.A147A|COL11A1_ENST00000370096.3_Silent_p.A147A|COL11A1_ENST00000512756.1_Silent_p.A147A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	147	TSP N-terminal.				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	p.A147A(4)		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)		AGTCTTCTGGGGCAGGTTTTC	0.368000													7	10					1	1	1	1	0
CDT1	81620	broad.mit.edu	37	16	88871952	88871952	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:88871952G>T	ENST00000301019.4	+	4	1212	c.593G>T	c.(592-594)cGc>cTc	p.R198L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	198					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	p.R198L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGATGTTCCGCAGCATGGAC	0.662000													65	86					2.79145e-41	4.08107e-41	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35750491	35750491	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:35750491A>G	ENST00000187397.4	+	11	1282	c.826A>G	c.(826-828)Aga>Gga	p.R276G	ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	276						cytoplasm	nucleic acid binding	p.R276G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAGAGATGACAGACGAAGTAA	0.378000													3	10					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297637	10297637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:10297637C>A	ENST00000403437.2	-	35	5189	c.5095G>T	c.(5095-5097)Gag>Tag	p.E1699*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1699					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1699*(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTTCTCTCTGTCTGTTCC	0.587000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	34					8.43275e-48	1.26999e-47	1	1	0
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	G	A	rs145360326	byFrequency	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:141693948G>A	ENST00000344120.4	-	3	981	c.795C>T	c.(793-795)tcC>tcT	p.S265S	SPRY4_ENST00000434127.2_Silent_p.S242S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682000									Testicular Cancer, Familial Clustering of				8	24					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594557	70594557	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70594557A>C	ENST00000260126.3	-	7	2350	c.1644T>G	c.(1642-1644)caT>caG	p.H548Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.H548Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.H493Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	548						integral to membrane|plasma membrane	transporter activity	p.H548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGATTCCTATGGGGCATGG	0.388000													24	90					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811966	129811966	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:129811966C>T	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TGACTCTTGACGGACAGAACC	0.413000													14	70					0	0	1	0	0
NEAT1	283131	broad.mit.edu	37	11	65211948	65211948	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:65211948G>T	ENST00000384994.1	+	0	20					NR_030343.1																						GACCCTGCTGGGCAGGGCTTC	0.607000													3	1					0.115264	0.117138	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212371	28212371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:28212371G>T	ENST00000284984.2	-	6	2129	c.1675C>A	c.(1675-1677)Cat>Aat	p.H559N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	559	Disintegrin.|TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H559N(2)|p.H559Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAGCTTCCATGAAAAGGCGTC	0.463000													14	23					2.61681e-11	3.11526e-11	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407783	105407783	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:105407783C>T	ENST00000333244.5	-	7	14124	c.14005G>A	c.(14005-14007)Gaa>Aaa	p.E4669K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4669						nucleus		p.E4669K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAACAGATTCCACAATGGGA	0.413000													12	32					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980917	40980917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:40980917G>T	ENST00000373198.3	-	10	1804	c.1569C>A	c.(1567-1569)taC>taA	p.Y523*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y523*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	523	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y523*(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGACAGCCTTGTAGTTGATCT	0.532000													12	48					0.00244969	0.00254118	1	1	0
UBE2J1	51465	broad.mit.edu	37	6	90042806	90042806	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:90042806G>T	ENST00000435041.2	-	7	955	c.678_splice	c.e7+1	p.S226_splice		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	226						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S226*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GAGCCATACCGATGTACTGGC	0.363000													3	68					0.150653	0.151258	1	1	0
SLC26A6	65010	broad.mit.edu	37	3	48670747	48670747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:48670747G>A	ENST00000358747.6	-	2	446	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	SLC26A6_ENST00000420764.2_Missense_Mutation_p.R87C|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R87C|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R87C|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R87C|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R87C	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6									p.R87C(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCCAGTCACGCACAGGATAC	0.607000													10	21					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327504	57327504	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:57327504T>C	ENST00000326441.9	-	10	2669	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	PEG3_ENST00000593695.1_Missense_Mutation_p.Y643C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y645C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y769C|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	769					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y769C(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGCCTCATAGACATTTTC	0.418000													105	43					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21385084	21385084	+	Missense_Mutation	SNP	A	A	T	rs150636116		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:21385084A>T	ENST00000380206.2	-	1	312	c.245T>A	c.(244-246)aTg>aAg	p.M82K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	82					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.M82K(2)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGCTGGATCATCTCATGGAG	0.483000													22	64					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768627	31768627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:31768627C>A	ENST00000355459.2	+	1	236	c.223C>A	c.(223-225)Ccc>Acc	p.P75T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament		p.P75T(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGTCCAGCCCCTGCCAGAC	0.612000													29	41					1.88708e-17	2.50942e-17	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17746954	17746954	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:17746954C>T	ENST00000428389.2	-	27	3357	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K	UNC13A_ENST00000552293.1_Missense_Mutation_p.E1032K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1032K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1030K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1032K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1032K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1032	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.E1032K(1)|p.E1120K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGAGAACTTCCCCCTTCTTG	0.498000													8	3					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530913	55530913	+	Silent	SNP	C	C	T	rs41521545	byFrequency	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:55530913C>T	ENST00000219070.4	+	10	2057	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	MMP2_ENST00000543485.1_Silent_p.L440L|MMP2_ENST00000437642.2_Silent_p.L466L|MMP2_ENST00000570308.1_Silent_p.L440L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	516	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.L516L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGCCTGAGCTCCCGGAAAAGA	0.612000													11	130					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62630480	62630480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:62630480G>C	ENST00000535781.1	+	7	965	c.854G>C	c.(853-855)gGa>gCa	p.G285A	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	285					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.G285A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCGACACACGGAGGAGACATC	0.502000													10	57					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255950	72255950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:72255950G>T	ENST00000305425.4	-	2	1369	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	DACH1_ENST00000354591.4_Missense_Mutation_p.S316Y|DACH1_ENST00000359684.2_Missense_Mutation_p.S316Y|DACH1_ENST00000313174.7_Missense_Mutation_p.S316Y	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S316Y(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATCCCAGGAGACATGAGACC	0.438000													8	14					0.00307968	0.00318149	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142503717	142503717	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:142503717A>T	ENST00000273482.6	+	6	1421	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R378*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	378					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R344*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCAGTTTGGCAGAATCATTCA	0.368000													12	43					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488886	70488886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:70488886C>A	ENST00000310961.5	+	18	1942	c.1524C>A	c.(1522-1524)tgC>tgA	p.C508*	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.C503*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	503						centrosome|focal adhesion|nucleolus	protein binding	p.C503*(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGGCGATTGCTGCACACCAT	0.582000													21	55					5.26018e-13	6.60826e-13	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74477490	74477490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:74477490C>A	ENST00000394019.2	-	17	2030	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	SLC4A5_ENST00000423644.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D545Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	545						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.D545Y(4)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGGTGGCATCCCCCAGAAGC	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	50					6.00712e-18	8.03091e-18	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141819658	141819658	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141819658G>T	ENST00000389484.3	-	8	2169	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTTCCTTGATAGTCCACT	0.393000										TSP Lung(27;0.18)			16	39					0.000422831	0.000447915	1	1	0
SCYL1	57410	broad.mit.edu	37	11	65305955	65305955	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:65305955G>C	ENST00000270176.5	+	18	2422	c.2345G>C	c.(2344-2346)cGg>cCg	p.R782P	SCYL1_ENST00000527009.1_Missense_Mutation_p.R639P|SCYL1_ENST00000533862.1_Missense_Mutation_p.G770R|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000527630.1_Missense_Mutation_p.R681P|SCYL1_ENST00000525364.1_Missense_Mutation_p.G763R|SCYL1_ENST00000279270.6_Missense_Mutation_p.G764R|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000420247.2_Missense_Mutation_p.R765P	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	782					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.R782P(1)		ovary(1)|skin(1)	2						CGCGAGGAGCGGCGGCGGGAG	0.701000													4	3					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166010962	166010962	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:166010962C>T	ENST00000360093.3	-	11	1871	c.1380_splice	c.e11+1	p.Q460_splice	SCN3A_ENST00000409101.3_Splice_Site_p.Q460_splice|SCN3A_ENST00000283254.7_Splice_Site_p.Q460_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q460Q(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACTCAGTACCTGAGCTTCTT	0.368000													6	29					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142170817	142170817	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:142170817G>T	ENST00000519811.1	+	9	1353	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	DENND3_ENST00000262585.2_Missense_Mutation_p.R348L|DENND3_ENST00000424248.1_Intron			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	348								p.R348L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACCGGCGGTCCTGGCAG	0.617000													13	36					5.26018e-13	6.60826e-13	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26596529	26596529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:26596529C>T	ENST00000381340.3	-	46	6813	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2133					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.D2133N(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCCTTCATCTGGATCCGAT	0.403000													12	19					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61193624	61193624	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:61193624T>A	ENST00000317995.4	-	1	347	c.83A>T	c.(82-84)gAg>gTg	p.E28V		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	28	Glu-rich (acidic).				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.E28V(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GTAGCCCCACTCCACACcctc	0.677000													33	29					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12506572	12506572	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:12506572C>A	ENST00000409402.4	-	6	1143	c.876G>T	c.(874-876)cgG>cgT	p.R292R	SPIRE1_ENST00000453447.2_Silent_p.R172R|SPIRE1_ENST00000309836.5_Silent_p.R95R|SPIRE1_ENST00000383356.2_Silent_p.R133R|SPIRE1_ENST00000410092.3_Silent_p.R292R	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	292						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.R292R(2)|p.R133R(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGTTGTACTGCCGCTCTTGGA	0.443000													22	65					2.32416e-17	3.07428e-17	1	1	0
IARS	3376	broad.mit.edu	37	9	94973152	94973152	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:94973152G>A	ENST00000375643.3	-	34	3992	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	IARS_ENST00000443024.2_Silent_p.P1242P|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Silent_p.P1132P	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1242					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.P1242P(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTCTTCACGGGGATGTCTT	0.353000													20	19					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16069342	16069342	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:16069342C>T	ENST00000375782.1	+	2	239	c.101C>T	c.(100-102)gCc>gTc	p.A34V	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	34	Leu-rich.					integral to membrane		p.A34V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|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;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATCGGGGCCCTTGGAGTC	0.642000													13	35					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37708205	37708205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:37708205G>T	ENST00000248901.6	+	12	1289	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	368	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E368*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGTGGATCGAGTCCATCCG	0.607000													23	58					2.4375e-19	3.31182e-19	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55587214	55587214	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:55587214G>A	ENST00000373965.2	-	33	4721	c.4327C>T	c.(4327-4329)Ccg>Tcg	p.P1443S	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1411S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1396S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1433S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1436S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1365S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1436S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1443S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1438S|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1047S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1436S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1436S(4)|p.P1438S(2)|p.P1441S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggcggcggcgggggcgCTGCC	0.587000										HNSCC(58;0.16)			7	15					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	5950	5950	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrM:5950G>A	ENST00000361624.2	+	1	47	c.47G>A	c.(46-48)gGa>gAa	p.16_16insE						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAAAGACATTGGAACACTATA	0.498000													22	168					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18434300	18434300	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:18434300A>G	ENST00000541669.1	+	2	147	c.36A>G	c.(34-36)ctA>ctG	p.L12L	LDHC_ENST00000280704.4_Silent_p.L12L|LDHC_ENST00000544105.1_Silent_p.L12L|LDHC_ENST00000546146.1_Silent_p.L12L|LDHC_ENST00000537486.1_Silent_p.L12L|LDHC_ENST00000536880.1_Silent_p.L12L|LDHC_ENST00000535809.1_Silent_p.L12L			P07864	LDHC_HUMAN	lactate dehydrogenase C	12					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L12L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTGAGAAGCTAATTGAGGATG	0.393000													31	20					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97158873	97158873	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:97158873G>T	ENST00000524981.3	+	27	3511	c.3511G>T	c.(3511-3513)Gca>Tca	p.A1171S				Q6ZTY8	CL063_HUMAN		1145								p.A1145S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCTGTGCTGGCAATTAACTT	0.299000													23	29					1.10923e-09	1.29583e-09	1	1	0
XIST	7503	broad.mit.edu	37	X	73063798	73063798	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:73063798T>C	ENST00000429829.1	-	0	8790					NR_001564.2																						GAAGGGGCCTTGGAGGGAAAC	0.388000													13	4					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107649	35107649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:35107649C>A	ENST00000378561.1	-	2	3678	c.623G>T	c.(622-624)gGg>gTg	p.G208V	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208V|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208V|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208V|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208V|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208V|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208V			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									GAGGCTACCCCCATTGCCCAC	0.657000													19	32					2.37509e-13	3.02945e-13	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813655	106813655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:106813655C>G	ENST00000407775.2	+	8	1595	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V	ZFPM2_ENST00000517361.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L317V|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L180V|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	449					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L449V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGCTCTTTCTCACGAACCA	0.463000													7	61					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169621556	169621556	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:169621556G>C	ENST00000366787.3	-	21	3589	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1114	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L1114V(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGTGAGTCAGGTGCCACCTA	0.547000													47	43					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86898148	86898148	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:86898148C>T	ENST00000370565.4	+	5	843	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	227					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.T227T(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGGATGCACCTTTATCTACA	0.378000													31	37					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120814149	120814149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:120814149G>C	ENST00000378164.2	-	6	975	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	226					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T226S(4)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATATCATGAGTATACACTGT	0.378000													26	58					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072028	197072028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:197072028C>A	ENST00000367409.4	-	18	6609	c.6353G>T	c.(6352-6354)aGg>aTg	p.R2118M	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2118	IQ 16.|IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2118M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGTGGCTGCCCTGTGCATGTG	0.328000													14	38					1.3612e-06	1.52601e-06	1	1	0
AXIN1	8312	broad.mit.edu	37	16	343556	343556	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:343556C>T	ENST00000262320.3	-	8	2489	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	AXIN1_ENST00000354866.3_Silent_p.Q706Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	706	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Q706Q(3)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCCTCCAGCTGGGTTAGGG	0.682000													83	137					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839787	27839787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:27839787T>A	ENST00000356790.2	+	3	609	c.364T>A	c.(364-366)Ttg>Atg	p.L122M		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	122	MAGE.							p.L122M(2)|p.L122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTGCATTACTTGCTGTACAA	0.428000													26	3					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935547	155935547	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:155935547G>A	ENST00000368316.1	-	9	734	c.264C>T	c.(262-264)acC>acT	p.T88T	ARHGEF2_ENST00000313695.7_Silent_p.T88T|ARHGEF2_ENST00000368315.3_Silent_p.T116T|ARHGEF2_ENST00000361247.4_Silent_p.T115T|ARHGEF2_ENST00000313667.4_Silent_p.T115T			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	115					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.T88T(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCCCGGATGGTTGCTGTGG	0.622000													24	40					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331863	100331863	+	RNA	SNP	C	C	T	rs146847301	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:100331863C>T	ENST00000341853.1	-	0	2328					NR_003260.1																						CTGACTCCCCCTGTACCCATT	0.592000													7	59					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78558628	78558628	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:78558628T>G	ENST00000446172.2	+	1	106	c.44T>G	c.(43-45)cTc>cGc	p.L15R	DNAJA4_ENST00000394852.3_Intron|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000343789.3_Intron	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	0	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.L15R(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ATCTCAGCACTCACAAGAGTA	0.393000													33	14					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:103477982C>A	ENST00000358392.2	-	14	1969	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	COL11A1_ENST00000353414.4_Missense_Mutation_p.R500I|COL11A1_ENST00000370096.3_Missense_Mutation_p.R539I|COL11A1_ENST00000512756.1_Missense_Mutation_p.R423I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	539	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	p.R539I(2)|p.R551I(2)|p.R539T(1)|p.R551T(1)		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)		AGGACCTGGTCTTCCAGTTAG	0.398000													4	17					1.024e-07	1.17972e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032086	141032086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141032086C>A	ENST00000389484.3	-	85	14020	c.13049G>T	c.(13048-13050)cGc>cTc	p.R4350L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4350	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4350L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTTCATAGCGCGTTGGACA	0.423000										TSP Lung(27;0.18)			14	23					4.14922e-12	5.06002e-12	1	1	0
EPHA7	2045	broad.mit.edu	37	6	93956601	93956601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:93956601C>T	ENST00000369303.4	-	15	2819	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	879	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E879K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGCCTTTCAGCACGCTCC	0.418000													27	15					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060902	76060902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:76060902C>T	ENST00000335749.4	+	4	3055	c.2486C>T	c.(2485-2487)gCa>gTa	p.A829V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A832V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A832V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A832V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	832	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A829V(2)|p.A832V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGGCACAGCAGCATGGGGG	0.577000													20	21					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477349	110477349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:110477349G>T	ENST00000378402.5	+	49	8392	c.8288G>T	c.(8287-8289)tGt>tTt	p.C2763F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2763					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2765F(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTGGAGTTTGTAATGACAGA	0.468000										HNSCC(38;0.096)			36	90					4.4194e-11	5.23626e-11	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87591351	87591351	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:87591351G>C	ENST00000320005.5	-	16	1958	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637					signal transduction|visual perception	integral to membrane	cGMP binding	p.I637M(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTCATGAGGATCCTTTCAG	0.408000													107	99					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19124931	19124931	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:19124931G>A	ENST00000252137.6	-	8	983	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	314					nervous system development	catalytic step 2 spliceosome		p.P314S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCATCATCGGGGACTCGTTC	0.592000													93	139					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770139	37770139	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:37770139T>C	ENST00000402918.1	-	3	2221	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E479G	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	479						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGGCAGCTTCTCCCCGATCAT	0.667000													13	183					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122289	141122289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141122289C>T	ENST00000389484.3	-	72	12043	c.11072G>A	c.(11071-11073)tGg>tAg	p.W3691*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3691	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W3691*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCACACACCCAGAAATGTAG	0.383000										TSP Lung(27;0.18)			3	23					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322802	150322802	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:150322802T>C	ENST00000533735.1	-	0	74					NR_024045.1																						AGACAGTGTGTGTCTGTGGAA	0.493000													6	48					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139538	68139538	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:68139538T>A	ENST00000262215.3	-	27	4139	c.3750A>T	c.(3748-3750)ccA>ccT	p.P1250P	ARFGEF1_ENST00000518230.1_Silent_p.P88P|ARFGEF1_ENST00000520381.1_Silent_p.P704P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1250					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P1250P(2)		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)			CTCGAATTGTTGGAGACCTAA	0.368000													15	34					0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1066945	1066945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:1066945C>A	ENST00000433731.2	-	10	672	c.611G>T	c.(610-612)tGg>tTg	p.W204L	RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212	204							zinc ion binding	p.W204L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAAGGTCAACCATGGGATGAA	0.552000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	78					9.8876e-21	1.35819e-20	1	1	0
AEN	64782	broad.mit.edu	37	15	89172497	89172497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:89172497C>T	ENST00000332810.3	+	3	732	c.581C>T	c.(580-582)gCg>gTg	p.A194V	AEN_ENST00000379231.3_Missense_Mutation_p.A194V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	194	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGGGCACGCGCTGCACAAC	0.612000													8	264					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819657	141819657	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141819657T>A	ENST00000389484.3	-	8	2170	c.1199A>T	c.(1198-1200)cAa>cTa	p.Q400L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTTCCTTGATAGTCCAC	0.393000										TSP Lung(27;0.18)			16	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246674	113246674	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:113246674A>G	ENST00000297405.5	-	68	10904	c.10660T>C	c.(10660-10662)Tta>Cta	p.L3554L	CSMD3_ENST00000455883.2_Silent_p.L3385L|CSMD3_ENST00000352409.3_Silent_p.L3484L|CSMD3_ENST00000343508.3_Silent_p.L3514L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3554						integral to membrane|plasma membrane		p.L3514L(2)|p.L3554L(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATATGCGTAACATTAGGCGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	92					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910105	910105	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:910105A>T	ENST00000316157.3	-	3	287	c.247T>A	c.(247-249)Tgg>Agg	p.W83R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCTCCTCCCATGCAGCACTC	0.587000													29	14					0	0	1	0	0
CNIH1	10175	broad.mit.edu	37	14	54896978	54896978	+	Splice_Site	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:54896978C>G	ENST00000216416.4	-	4	511		c.e4+1		CNIH_ENST00000557690.1_Splice_Site|CNIH_ENST00000395573.4_Intron|CNIH_ENST00000553660.1_Splice_Site|CNIH_ENST00000556113.1_Silent_p.G136G	NM_005776.2	NP_005767.1	O95406	CNIH_HUMAN							immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(112;0.00341)		TTTCAACTTACCCATATAGGT	0.328000													6	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:50278670G>C	ENST00000442544.2	+	2	954	c.338G>C	c.(337-339)gGa>gCa	p.G113A	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	113	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G113A(2)|p.G113V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGATGAGGGACTTTACCAA	0.448000													20	14					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512000										HNSCC(3;0.000094)			42	65					5.34276e-22	7.50387e-22	1	1	0
FSCB	84075	broad.mit.edu	37	14	44973886	44973886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:44973886G>A	ENST00000340446.4	-	1	2596	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	769						cilium		p.P769S(2)		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)		TTTACTGCTGGAATTCCTGCC	0.408000													16	71					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286349	152286349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:152286349G>T	ENST00000368799.1	-	3	1048	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	338	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S338Y(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATCATGGGACCTGGGGTG	0.562000									Ichthyosis				120	168					1.34936e-44	1.98435e-44	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49998266	49998266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:49998266C>T	ENST00000257894.2	-	2	313	c.152G>A	c.(151-153)cGc>cAc	p.R51H	FAM186B_ENST00000544141.1_5'UTR|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.R51H	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	51						protein complex		p.R51H(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCTGGAAGCGGTTGATGAC	0.408000													9	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001659	177001659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:177001659G>T	ENST00000367654.2	-	3	811	c.798C>A	c.(796-798)agC>agA	p.S266R	ASTN1_ENST00000367657.3_Missense_Mutation_p.S266R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S266R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S266R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	266					cell migration|neuron cell-cell adhesion	integral to membrane		p.S266R(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGTGACCTGGCTGGCAAAGT	0.597000													69	108					5.26073e-25	7.51532e-25	1	1	0
CDH23	64072	broad.mit.edu	37	10	73539147	73539147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:73539147C>T	ENST00000224721.6	+	40	5331	c.5326C>T	c.(5326-5328)Cga>Tga	p.R1776*		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1771	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R1776*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCCCATGACCGAGACTCAGG	0.622000													3	32					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:11501681C>T	ENST00000423059.3	-	10	2709	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.					integral to membrane		p.E820K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)			61	103					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67200263	67200263	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:67200263C>G	ENST00000264009.8	+	7	1491	c.526C>G	c.(526-528)Cag>Gag	p.Q176E	HSF4_ENST00000421453.1_Missense_Mutation_p.Q176E|HSF4_ENST00000584272.1_Missense_Mutation_p.Q176E|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000521374.1_Missense_Mutation_p.Q176E	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	176	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Q176E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GACACTTCGGCAGAGCCACGG	0.637000													7	17					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795413	66795413	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:66795413G>C	ENST00000307961.6	-	3	357	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q89E(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AAAGCACCCTGGCCAGAGCGG	0.493000													14	34					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30136919	30136919	+	Splice_Site	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:30136919T>C	ENST00000335574.5	+	5	664		c.e5+2		HM13_ENST00000398174.3_Splice_Site|HM13_ENST00000376127.3_Splice_Site|HM13_ENST00000492709.1_Splice_Site|HM13_ENST00000340852.5_Splice_Site	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTGAGGAAGGTGAGTAGTCAG	0.572000													15	416					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107650	35107650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:35107650C>A	ENST00000378561.1	-	2	3677	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208W|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208W|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208W|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208W|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208W|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208W			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									AGGCTACCCCCATTGCCCACC	0.657000													19	31					1.00905e-13	1.29365e-13	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188216867	188216867	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:188216867T>C	ENST00000409998.1	-	14	1883	c.1102A>G	c.(1102-1104)Atc>Gtc	p.I368V	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.I368V|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I368V			Q16602	CALRL_HUMAN	calcitonin receptor-like	368						integral to plasma membrane		p.I368V(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGTGCATGATGTAGTCATAT	0.413000													5	14					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58111475	58111475	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:58111475G>T	ENST00000332854.6	+	1	223	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF530_ENST00000597864.1_5'UTR	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M1I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAGTCCGATGGCGGCGGCAC	0.716000													3	3					0.004672	0.00480658	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													14	39					1.05317e-09	1.23612e-09	1	1	0
DGKK	139189	broad.mit.edu	37	X	50213554	50213554	+	RNA	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:50213554C>G	ENST00000376025.2	-	0	183							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					agcggcggagccggcggcgga	0.706000													18	1					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220706	1220706	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:1220706G>T	ENST00000326873.7	+	5	1897	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	242	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.G242W(1)|p.G242R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTCGGCTGGGGTCACCCT	0.706000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			19	10					5.35267e-07	6.05505e-07	1	1	0
CDIP1	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:4563767C>A	ENST00000399599.3	-	3	719	c.171G>T	c.(169-171)ccG>ccT	p.P57P	CDIP1_ENST00000567695.1_Silent_p.P57P|CDIP1_ENST00000564828.1_Silent_p.P22P|CDIP1_ENST00000563332.2_Silent_p.P57P|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000563507.1_Silent_p.P57P					cell death-inducing p53 target 1									p.P57P(2)									TTGGGTGACCCGGCGGCTCAT	0.652000													64	85					2.94687e-45	4.35928e-45	1	1	0
WDR89	112840	broad.mit.edu	37	14	64065716	64065716	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:64065716G>C	ENST00000394942.2	-	2	1033	c.945C>G	c.(943-945)agC>agG	p.S315R	WDR89_ENST00000267522.3_Missense_Mutation_p.S315R|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	315								p.S315R(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTCCCTGAAGGCTAGTCACAT	0.438000													31	33					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969655	118969655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:118969655C>G	ENST00000334549.1	+	3	1000	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423000													42	102					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521630	182521630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:182521630G>T	ENST00000410087.3	-	1	204	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Missense_Mutation_p.S35Y|CERKL_ENST00000374969.2_Missense_Mutation_p.S35Y|CERKL_ENST00000339098.5_Missense_Mutation_p.S35Y|CERKL_ENST00000374970.2_Missense_Mutation_p.S35Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	35					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.S35Y(4)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGCTGCGGGGACGTTAACAG	0.711000													10	30					8.34094e-07	9.39295e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141773419	141773419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:141773419G>T	ENST00000389484.3	-	13	3007	c.2036C>A	c.(2035-2037)gCc>gAc	p.A679D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCATCCAGGCCTTCTCAAT	0.408000										TSP Lung(27;0.18)			23	51					3.28513e-13	4.16894e-13	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:190067177C>G	ENST00000367462.3	-	8	2503	c.2272G>C	c.(2272-2274)Gat>Cat	p.D758H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D656H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		758						extracellular region		p.D758H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000													29	52					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68549134	68549134	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:68549134T>A	ENST00000229135.3	-	4	631	c.500A>T	c.(499-501)tAa>tTa	p.*167L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	0					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.*167L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GGACAACCATTACTGGGATGC	0.363000													11	43					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6059022	6059022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:6059022G>A	ENST00000261405.5	-	51	8437	c.8183C>T	c.(8182-8184)aCt>aTt	p.T2728I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2728	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.T2728I(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCCTGGCAGTGATGTCGTT	0.537000													5	146					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	947922	947922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:947922C>T	ENST00000217260.4	-	3	400	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RSPO4_ENST00000400634.2_Missense_Mutation_p.D102N	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	102					Wnt receptor signaling pathway	extracellular region	heparin binding	p.D102N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGCAGAAGTCCTGGCTGAAG	0.602000													80	190					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310219	25310219	+	RNA	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:25310219A>T	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							GGAAAAGCTGAACAAAATGAG	0.473000													33	164					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88876190	88876190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:88876190C>G	ENST00000303236.3	-	12	2219	c.1918G>C	c.(1918-1920)Gtt>Ctt	p.V640L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V489L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	640	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	p.V640L(2)		ovary(3)	3						AAGGCTTTAACTTCTCGCATT	0.393000													32	82					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967041	41967041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:41967041G>T	ENST00000298919.7	+	10	2068	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E820D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E562D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	820							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.E820D(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGATCAAGAGAAGGCAGTCA	0.488000													278	624					9.33756e-138	1.30726e-137	1	1	0
SULF1	23213	broad.mit.edu	37	8	70539460	70539460	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:70539460C>A	ENST00000260128.4	+	16	2583	c.1866C>A	c.(1864-1866)ccC>ccA	p.P622P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Silent_p.P622P|SULF1_ENST00000419716.3_Silent_p.P622P|SULF1_ENST00000402687.4_Silent_p.P622P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.P622P(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATTCTTCCCAATGACTCTA	0.378000													20	46					3.8784e-16	4.41168e-16	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151259952	151259952	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:151259952G>A	ENST00000368879.2	+	2	1283	c.1185G>A	c.(1183-1185)agG>agA	p.R395R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.R395R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGTACAAGGCTGAAAGGCA	0.597000													28	48					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	56					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953319	30953319	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:30953319G>T	ENST00000597505.1	-	20	2895	c.2897_splice	c.e20+1	p.Q966_splice	DCDC1_ENST00000339794.5_Splice_Site_p.Q45_splice|DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	201					intracellular signal transduction			p.Q45K(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTCTTACTGCGTTTTCCGT	0.363000													38	37					8.20599e-20	9.53291e-20	1	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111642213	111642213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:111642213C>A	ENST00000502935.1	-	10	1137	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A340S|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A297S|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A226S			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.A297S(2)|p.A340S(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGCTCACAGCATAGCTGGCC	0.577000													41	272					4.45467e-35	5.55308e-35	1	1	0
ACTN2	88	broad.mit.edu	37	1	236925779	236925779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:236925779G>A	ENST00000366578.4	+	21	2711	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	ACTN2_ENST00000546208.1_Missense_Mutation_p.E343K|ACTN2_ENST00000542672.1_Missense_Mutation_p.E849K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	849					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.E849K(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGCGGAGGAGCTGCGTCG	0.537000													55	90					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682886	53682886	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:53682886T>C	ENST00000262135.4	-	16	2387	c.2294A>G	c.(2293-2295)cAt>cGt	p.H765R	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H765R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	765					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.H765R(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGACTGCATATGCTCTGGCCC	0.353000													100	144					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131658	66131658	+	RNA	SNP	C	C	A	rs7210736	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:66131658C>A	ENST00000590019.1	-	0	298																											AAGTCATCATCCAGCTTGGTC	0.587000													5	87					0.00198382	0.00205145	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949602	17949602	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:17949602A>T	ENST00000361221.3	+	12	1291	c.1132A>T	c.(1132-1134)Atc>Ttc	p.I378F	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I136F|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I378F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	378	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.I378F(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CATGTTCCAGATCGCCCTGTC	0.622000													23	51					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459557	105459557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:105459557C>A	ENST00000351513.2	-	3	730	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	200					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.A200S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCTCTGCAATTAAGTCT	0.453000													52	175					2.5401e-28	3.05483e-28	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259805	90259805	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:90259805G>T	ENST00000471857.1	+	0	213																											CAGCTCCTGGGGCTCCTGCTG	0.542000													81	302					3.3819e-59	4.48183e-59	1	1	0
GGNBP2	79893	broad.mit.edu	37	17	34943642	34943642	+	Silent	SNP	C	C	T	rs142994076	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:34943642C>T	ENST00000304718.4	+	13	2173	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	619					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.S619S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTCCCGATTCCGGAAAAGGTG	0.478000													8	184					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868922	51868922	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:51868922T>A	ENST00000453097.2	+	16	2321	c.2104T>A	c.(2104-2106)Ttt>Att	p.F702I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.F729I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.F649I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.F649I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	702					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F702I(4)|p.F649I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTATTCTCTTTTTCACCAC	0.483000													38	298					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636980	248636980	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248636980T>G	ENST00000359594.2	+	1	354	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110R(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTTCTACCTGACCCTGGCT	0.542000													171	544					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113521	59113521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:59113521C>A	ENST00000395153.3	+	4	2216	c.2069C>A	c.(2068-2070)tCg>tAg	p.S690*	DACT1_ENST00000335867.4_Nonsense_Mutation_p.S727*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.S446*|DACT1_ENST00000556859.1_Nonsense_Mutation_p.S446*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.S446*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	727					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S727*(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCGAGTACTCGGCCGAGTGC	0.662000													38	43					2.87052e-16	3.29265e-16	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880668	237880668	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:237880668G>A	ENST00000366574.2	+	72	10811	c.10494_splice	c.e72+1	p.L3498_splice	RYR2_ENST00000360064.6_Splice_Site_p.L3496_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3482_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3498					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L3496L(2)		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)			GATTTAGCCTGGTAAGTCTCC	0.478000													33	71					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106632981	106632981	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:106632981T>C	ENST00000378026.4	-	2	1766	c.1630A>G	c.(1630-1632)Agc>Ggc	p.S544G		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	544						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S544G(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCACTTGGCTGACTGAGGCT	0.532000													41	78					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404945	128404945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:128404945G>C	ENST00000368227.3	-	9	1856	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	PTPRK_ENST00000532331.1_Missense_Mutation_p.S497C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.S497C|PTPRK_ENST00000368226.4_Missense_Mutation_p.S497C|PTPRK_ENST00000368207.3_Missense_Mutation_p.S497C|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S497C|PTPRK_ENST00000368215.3_Missense_Mutation_p.S497C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	497	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S497C(2)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCTTGAAGAGATTTTACTGG	0.338000													37	136					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799788	41799788	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:41799788G>A	ENST00000263800.6	-	10	1413	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	LTK_ENST00000453182.2_Silent_p.L378L|LTK_ENST00000355166.5_Silent_p.L378L|LTK_ENST00000561619.1_Silent_p.L121L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	439					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L439L(2)|p.L378L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACACCATAAGGAGGCTCAGTG	0.577000										TSP Lung(18;0.14)			3	5					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953812	161953812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:161953812G>T	ENST00000294794.3	-	8	2329	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	OLFML2B_ENST00000367938.1_Missense_Mutation_p.L119M|OLFML2B_ENST00000367940.2_Missense_Mutation_p.L637M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	636	Olfactomedin-like.							p.L636M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATCGTCCAGGGCCGGGTAG	0.632000													41	114					9.57592e-29	1.15674e-28	1	1	0
ZNF438	220929	broad.mit.edu	37	10	31137569	31137569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:31137569C>T	ENST00000538351.1	-	7	2372	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	ZNF438_ENST00000361310.3_Missense_Mutation_p.V589M|ZNF438_ENST00000436087.2_Missense_Mutation_p.V589M|ZNF438_ENST00000375311.1_Missense_Mutation_p.V153M|ZNF438_ENST00000444692.2_Missense_Mutation_p.V579M|ZNF438_ENST00000442986.1_Missense_Mutation_p.V589M|ZNF438_ENST00000452305.1_Missense_Mutation_p.V579M|ZNF438_ENST00000413025.1_Missense_Mutation_p.V589M|ZNF438_ENST00000331737.6_Missense_Mutation_p.V579M	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V589M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACCCTATGCACTTCTTTCAGA	0.488000													158	96					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:57829576C>T	ENST00000371030.2	+	5	4812	c.4812C>T	c.(4810-4812)ccC>ccT	p.P1604P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604						intracellular	nucleic acid binding|zinc ion binding	p.P1604P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACTGTCCCCTGCCCCTCTT	0.493000													64	222					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	C	rs147799875		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:190067891G>C	ENST00000367462.3	-	8	1789	c.1558C>G	c.(1558-1560)Cgc>Ggc	p.R520G	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R418G	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		520						extracellular region		p.R520G(2)|p.R520S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTATTGAGGCGCATGTCATTG	0.453000													148	272					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113254006	113254006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:113254006T>A	ENST00000297405.5	-	66	10655	c.10411A>T	c.(10411-10413)Aaa>Taa	p.K3471*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K3401*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K3431*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K3302*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3471						integral to membrane|plasma membrane		p.K3471*(2)|p.K3431*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAATATTTTAGAACCAGCT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			156	130					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763566	77763566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:77763566G>T	ENST00000521891.2	+	10	4857	c.4409G>T	c.(4408-4410)tGg>tTg	p.W1470L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1425L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1444L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1425L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1470L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAACTGTGGGCAGAGAGC	0.502000										HNSCC(33;0.089)			94	288					1.42366e-38	1.79106e-38	1	1	0
TMC8	147138	broad.mit.edu	37	17	76130576	76130576	+	Silent	SNP	C	C	T	rs149203228	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:76130576C>T	ENST00000318430.5	+	8	1292	c.918C>T	c.(916-918)aaC>aaT	p.N306N	TMC8_ENST00000589691.1_Silent_p.N83N	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	306			N -> I (in dbSNP:rs7208422).			endoplasmic reticulum membrane|integral to membrane		p.N306N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACGTACTCAACGGGCTCCTGG	0.612000													3	11					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72945023	72945023	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:72945023C>G	ENST00000553530.1	+	12	1047	c.840C>G	c.(838-840)tcC>tcG	p.S280S	RGS6_ENST00000402788.2_Silent_p.S280S|RGS6_ENST00000554782.1_Silent_p.S141S|RGS6_ENST00000556437.1_Silent_p.S280S|RGS6_ENST00000555571.1_Silent_p.S280S|RGS6_ENST00000434263.2_Silent_p.S211S|RGS6_ENST00000406236.4_Silent_p.S280S|RGS6_ENST00000407322.4_Silent_p.S280S|RGS6_ENST00000404301.2_Silent_p.S280S|RGS6_ENST00000343854.6_Silent_p.S280S|RGS6_ENST00000355512.6_Silent_p.S280S|RGS6_ENST00000553525.1_Silent_p.S280S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	280	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.S280S(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGAAAATGTCCAAAGTGGCTG	0.318000													13	56					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15569349	15569349	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:15569349A>G	ENST00000424120.1	+	26	3592	c.3338A>G	c.(3337-3339)cAt>cGt	p.H1113R	CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1064R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1113R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1113R			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1113	C2.				cell projection organization	cilium|microtubule basal body		p.H1113R(2)|p.H1064R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACAGTTTGCCATACGACTACG	0.363000													23	65					0	0	1	0	0
CNIH1	10175	broad.mit.edu	37	14	54896978	54896978	+	Splice_Site	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:54896978C>G	ENST00000216416.4	-	4	511		c.e4+1		CNIH_ENST00000553660.1_Splice_Site|CNIH_ENST00000557690.1_Splice_Site|CNIH_ENST00000556113.1_Silent_p.G136G|CNIH_ENST00000395573.4_Intron	NM_005776.2	NP_005767.1	O95406	CNIH_HUMAN							immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(112;0.00341)		TTTCAACTTACCCATATAGGT	0.328000													14	38					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171481269	171481269	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:171481269G>C	ENST00000367742.3	+	2	284	c.42G>C	c.(40-42)ggG>ggC	p.G14G	PRRC2C_ENST00000426496.2_Silent_p.G14G|PRRC2C_ENST00000392078.3_Silent_p.G14G|PRRC2C_ENST00000338920.4_Silent_p.G14G|PRRC2C_ENST00000476522.1_3'UTR			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	14							protein C-terminus binding	p.G14G(2)									CAAAGGATGGGAAAAAGTATG	0.418000													11	55					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603806	10603806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:10603806G>T	ENST00000334534.5	+	8	1186	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.A336S(2)									GGTTTTGCCAGCTTCAGAGTT	0.443000													42	69					2.01872e-29	2.44937e-29	1	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169943	20169943	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:20169943G>T	ENST00000338912.5	-	0	328																		p.T110K(2)									ATACATGGCCGTGTCCTCAGA	0.517000													83	859					6.20995e-33	7.67112e-33	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212371	28212371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:28212371G>T	ENST00000284984.2	-	6	2129	c.1675C>A	c.(1675-1677)Cat>Aat	p.H559N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	559	Disintegrin.|TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H559N(2)|p.H559Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAGCTTCCATGAAAAGGCGTC	0.463000													8	34					7.48243e-07	8.04214e-07	1	1	0
LDHC	3948	broad.mit.edu	37	11	18434300	18434300	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:18434300A>G	ENST00000541669.1	+	2	147	c.36A>G	c.(34-36)ctA>ctG	p.L12L	LDHC_ENST00000535809.1_Silent_p.L12L|LDHC_ENST00000546146.1_Silent_p.L12L|LDHC_ENST00000537486.1_Silent_p.L12L|LDHC_ENST00000544105.1_Silent_p.L12L|LDHC_ENST00000280704.4_Silent_p.L12L|LDHC_ENST00000536880.1_Silent_p.L12L			P07864	LDHC_HUMAN	lactate dehydrogenase C	12					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L12L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTGAGAAGCTAATTGAGGATG	0.393000													121	90					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112482	248112482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248112482G>T	ENST00000357191.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCATTAGGAGGTGCAGAAGCA	0.438000													133	1175					1.21526e-53	1.59503e-53	1	1	0
RIMS1	22999	broad.mit.edu	37	6	72960066	72960066	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:72960066C>G	ENST00000264839.7	+	13	2275	c.2275C>G	c.(2275-2277)Ctg>Gtg	p.L759V	RIMS1_ENST00000523963.1_Missense_Mutation_p.L233V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L759V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L152V|RIMS1_ENST00000521978.1_Missense_Mutation_p.L759V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L233V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L759V|RIMS1_ENST00000520567.1_Missense_Mutation_p.L759V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L759V|RIMS1_ENST00000348717.5_Missense_Mutation_p.L759V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L218V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L759V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	759	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L759V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACACCAGCTGATTGTAAA	0.363000													31	33					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53223860	53223860	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:53223860T>C	ENST00000330553.5	-	4	836	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	268	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.K268E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGCCCACTTTGCCATGCAGA	0.552000													31	136					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:159163801G>C	ENST00000368125.4	+	5	819	c.662G>C	c.(661-663)aGa>aCa	p.R221T	CADM3_ENST00000368124.4_Missense_Mutation_p.R255T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000													90	145					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220134997	220134997	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:220134997G>T	ENST00000490341.1	+	0	297					NR_003063.1																						ACTATGCCTGGGGCCACTACA	0.547000													7	6					1.61879e-10	1.79646e-10	1	1	0
CILP	8483	broad.mit.edu	37	15	65499310	65499310	+	Silent	SNP	G	G	A	rs146845325		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:65499310G>A	ENST00000261883.4	-	4	400	c.234C>T	c.(232-234)cgC>cgT	p.R78R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R78R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATAGTAGAAGCGAATGGCGT	0.602000													4	47					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168849	90168849	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:90168849T>A	ENST00000268138.7	+	20	5413	c.5308T>A	c.(5308-5310)Ttg>Atg	p.L1770M	TICRR_ENST00000560985.1_Missense_Mutation_p.L1769M|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator									p.L1770M(2)									ACAGTTTGGGTTGAGTTCCAG	0.537000													12	26					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367768	57367768	+	Silent	SNP	C	C	T	rs150601964	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:57367768C>T	ENST00000403558.1	+	2	936	c.570C>T	c.(568-570)gcC>gcT	p.A190A	SERPING1_ENST00000340687.6_Silent_p.A156A|SERPING1_ENST00000278407.4_Silent_p.A156A|SERPING1_ENST00000378323.4_Silent_p.A161A|SERPING1_ENST00000378324.2_Silent_p.A104A	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A156A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TCTACCACGCCTTCTCAGCAA	0.537000													5	127					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019010	193019010	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:193019010A>T	ENST00000342358.4	-	24	2882	c.2765T>A	c.(2764-2766)cTg>cAg	p.L922Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	922					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L922Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAATAGAGCAGTAATGCACT	0.353000													169	194					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195622	17195622	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:17195622T>C	ENST00000377799.3	-	10	1006	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.Y274C|TRDMT1_ENST00000488990.1_Missense_Mutation_p.Y197C|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.Y239C|TRDMT1_ENST00000412821.3_Missense_Mutation_p.Y296C	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	320					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.Y320C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAGGGATTTGTAGATATTCTC	0.338000													16	52					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46345933	46345933	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:46345933C>A	ENST00000339464.4	-	2	539	c.165G>T	c.(163-165)cgG>cgT	p.R55R	WNT7B_ENST00000410058.1_Silent_p.R55R|WNT7B_ENST00000410089.1_Silent_p.R39R|WNT7B_ENST00000409496.3_Silent_p.R59R	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	55					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.R55R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCATCGGGCCGACTCTGGC	0.627000													15	15					3.52763e-06	3.77664e-06	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100331863	100331863	+	RNA	SNP	C	C	T	rs146847301	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:100331863C>T	ENST00000341853.1	-	0	2328					NR_003260.1																						CTGACTCCCCCTGTACCCATT	0.592000													6	47					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224306	248224306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248224306G>T	ENST00000359959.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCATTAGGAGGTGCAGAAGCA	0.438000													245	383					6.39127e-201	8.99391e-201	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588136	204588136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:204588136G>A	ENST00000367175.1	-	1	3197	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	LRRN2_ENST00000367176.3_Missense_Mutation_p.R329C|LRRN2_ENST00000367177.3_Missense_Mutation_p.R329C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion	integral to membrane	receptor activity	p.R329C(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGAAGGCGCGGGGGTGGATG	0.607000													8	54					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51014719	51014719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:51014719G>A	ENST00000360719.2	-	6	744	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CPT1B_ENST00000405237.3_Missense_Mutation_p.R203C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R203C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R169C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.R203C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R203C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	203					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R203C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AACTCCATGCGGTAATATTCC	0.522000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47839920	47839920	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:47839920G>A	ENST00000273857.4	-	1	46	c.47C>T	c.(46-48)gCc>gTc	p.A16V	CORIN_ENST00000502252.1_Missense_Mutation_p.A16V|CORIN_ENST00000505909.1_Missense_Mutation_p.A16V|CORIN_ENST00000504584.1_Missense_Mutation_p.A16V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	16					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.A16V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGGGGACCCGGCTCTGCGGCA	0.562000													12	235					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265333	95265333	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:95265333T>C	ENST00000297596.2	-	3	603	c.339A>G	c.(337-339)acA>acG	p.T113T	GEM_ENST00000396194.2_Silent_p.T113T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	113					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.T113T(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTCGTTCATATGTATCTTCTA	0.403000													126	312					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597207	18597207	+	RNA	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:18597207C>G	ENST00000546162.2	+	0	947					NR_003569.1																						CTCAGAAGAACTTGTTTCCCG	0.557000													22	165					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18523047	18523047	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:18523047G>A	ENST00000336714.3	+	13	1943		c.e13+1		SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCGCCCGAAAGTAAGCAGCCC	0.488000													110	218					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322802	150322802	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:150322802T>C	ENST00000533735.1	-	0	74					NR_024045.1																						AGACAGTGTGTGTCTGTGGAA	0.493000													13	103					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:154516513G>T	ENST00000368482.4	+	9	1416	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R193L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	193							nucleotide binding|RNA binding	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617000													105	174					1.19107e-50	1.54839e-50	1	1	0
LUC7L	55692	broad.mit.edu	37	16	242974	242974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:242974C>T	ENST00000337351.4	-	7	851	c.728G>A	c.(727-729)cGc>cAc	p.R243H	LUC7L_ENST00000397780.1_Missense_Mutation_p.R190H|LUC7L_ENST00000397783.1_Missense_Mutation_p.R243H|LUC7L_ENST00000293872.8_Missense_Mutation_p.R243H	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	243	Arg/Ser-rich.						metal ion binding	p.R243H(4)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCTCAAGCGATCCTGATT	0.507000													34	87					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107649	35107649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:35107649C>A	ENST00000378561.1	-	2	3678	c.623G>T	c.(622-624)gGg>gTg	p.G208V	FAM214B_ENST00000378554.2_Missense_Mutation_p.G208V|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208V|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208V|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208V|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208V|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208V			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									GAGGCTACCCCCATTGCCCAC	0.657000													9	20					1.76689e-08	1.94501e-08	1	1	0
LOC101928517	101928517	broad.mit.edu	37	19	51670842	51670842	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:51670842C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA														p.L43L(1)									TCTTTGTGCACTGTTCGGTCT	0.577000													4	2					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631306	32631306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:32631306G>T	ENST00000242310.4	-	1	4361	c.4272C>A	c.(4270-4272)ttC>ttA	p.F1424L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1424	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.F1424L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGGAGTGTGGAAAGGGTGTG	0.473000													392	330					5.51998e-205	7.80806e-205	1	1	0
NHEJ1	79840	broad.mit.edu	37	2	219941063	219941063	+	Silent	SNP	G	G	A	rs897477	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:219941063G>A	ENST00000409720.1	-	7	929	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NHEJ1_ENST00000356853.5_3'UTR			Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	0					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTTGGAAGCTGTTCTCCAAGT	0.473000								Non-homologous end-joining					4	47					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699878	136699878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:136699878G>C	ENST00000445907.2	+	3	794	c.266G>C	c.(265-267)tGg>tCg	p.W89S	AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.W89S|CHRM2_ENST00000402486.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.W89S|CHRM2_ENST00000397608.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.W89S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	89					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.W89S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGGTTACTGGCCTTTGGGA	0.463000													153	367					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27510036	27510036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:27510036G>C	ENST00000356183.4	-	13	2095	c.2080C>G	c.(2080-2082)Ccg>Gcg	p.P694A	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P694A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694						transcription factor TFIIIC complex	DNA binding|protein binding	p.P694A(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCCATGGACGGGTGCACCACC	0.577000													37	98					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:39869182G>C	ENST00000538976.1	+	24	3095	c.2913G>C	c.(2911-2913)cgG>cgC	p.R971R	DAAM2_ENST00000398904.2_Silent_p.R972R|DAAM2_ENST00000274867.4_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607000													39	90					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574915	82574915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:82574915G>T	ENST00000339465.5	+	3	778	c.709G>T	c.(709-711)Gag>Tag	p.E237*	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Nonsense_Mutation_p.E222*	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	237								p.E237*(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAAGTACCAGAGTATGTGCC	0.473000													31	234					2.20262e-25	2.6031e-25	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821395	151821395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:151821395A>T	ENST00000370306.2	+	9	1570	c.1550A>T	c.(1549-1551)aAg>aTg	p.K517M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.K517M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTGGGAAGCCCATGCTT	0.547000													91	108					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115965313	115965313	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:115965313A>G	ENST00000238256.3	-	5	444	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	109	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding	p.Y134Y(2)|p.Y109Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAGAATCCTATACTGTAGAC	0.328000													41	30					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140070879	140070879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:140070879C>A	ENST00000504156.1	-	1	730	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HARS_ENST00000448240.1_5'UTR|HARS_ENST00000307633.3_Missense_Mutation_p.R4L|HARS_ENST00000438307.2_Missense_Mutation_p.R4L|HARS_ENST00000431330.2_Missense_Mutation_p.R4L|HARS_ENST00000415192.2_Missense_Mutation_p.R4L|HARS_ENST00000457527.2_Missense_Mutation_p.R4L	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	4	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.R4L(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCGCCGCACGCTCTGCCAT	0.652000													9	9					4.68919e-08	5.12059e-08	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244272	42244272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:42244272C>A	ENST00000449246.1	+	12	1851	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGCCCCTCTCTGTCCTCCTG	0.647000													5	10					0.00116845	0.0012175	1	1	0
NEK8	284086	broad.mit.edu	37	17	27065114	27065114	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:27065114C>T	ENST00000268766.6	+	8	1107	c.1071_splice	c.e8-1	p.A358_splice	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	358						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A369V(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCCTGCAGGCCCCACCCCTA	0.697000													9	4					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038767	11038767	+	RNA	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:11038767A>C	ENST00000470054.1	-	0	1436									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTCTCTTAGTAATAGCTG	0.378000													40	301					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633039	11633039	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:11633039G>T	ENST00000423059.3	-	3	1364	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	371	TSP type-1 3.					integral to membrane		p.P371P(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTTGAGCAGGGGCTCCACT	0.517000										HNSCC(18;0.044)			44	114					2.37825e-27	2.8352e-27	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:50659489G>T	ENST00000252677.3	+	2	1061	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R354L(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGTGTCCCCCGGCCCTCCTGT	0.463000													121	41					3.8324e-49	4.95851e-49	1	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26204930	26204930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:26204930C>A	ENST00000360441.4	+	1	73	c.58C>A	c.(58-60)Cgt>Agt	p.R20S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R20S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TAAGCGTCACCGTAAGGTCCT	0.547000													39	159					3.54909e-21	4.1406e-21	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39724056	39724056	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:39724056T>G	ENST00000361961.3	-	23	3708	c.3289A>C	c.(3289-3291)Agc>Cgc	p.S1097R	KIF21A_ENST00000361418.5_Missense_Mutation_p.S1110R|KIF21A_ENST00000544797.2_Intron|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1074R|KIF21A_ENST00000395670.3_Intron	NM_001173464.1|NM_017641.3	NP_001166935.1|NP_060111.2	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1110					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1097R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATGGTACGCTATCTAGATCT	0.313000													9	196					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292827	130292827	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:130292827T>A	ENST00000358511.6	+	7	3036	c.3005T>A	c.(3004-3006)gTt>gAt	p.V1002D	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1002D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1002	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.V1002D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGATCTTGTTTTCCTTATG	0.358000													51	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600341	179600341	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:179600341T>A	ENST00000589042.1	-	50	15056	c.14832A>T	c.(14830-14832)acA>acT	p.T4944T	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T4627T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3700T|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4627	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T3700T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCAAGTGTTGCTATTT	0.433000													30	30					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55721652C>A	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G957*(4)|p.G962*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			31	54					1.7881e-09	1.97632e-09	1	1	0
CSNK1G1	53944	broad.mit.edu	37	15	64495340	64495340	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:64495340T>C	ENST00000303052.7	-	10	1471	c.1048A>G	c.(1048-1050)Act>Gct	p.T350A	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T350A|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T332A|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T350A	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	350					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T350A(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTTCTCGAGTTATTGCAGAT	0.453000													115	61					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149140	73149140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:73149140C>T	ENST00000286657.4	-	22	3367	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.G1111S(2)		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)			GCATTTGGACCTCCCACTGAA	0.463000													46	246					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20968951	20968951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:20968951C>A	ENST00000298925.5	+	12	1378	c.1225C>A	c.(1225-1227)Cct>Act	p.P409T	NELL1_ENST00000357134.5_Missense_Mutation_p.P381T|NELL1_ENST00000325319.5_Missense_Mutation_p.P324T|NELL1_ENST00000532434.1_Missense_Mutation_p.P381T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	381	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.P381T(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCACATTCTTCCTGAGAATCA	0.473000													257	194					2.20191e-112	3.05138e-112	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103287	65103287	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:65103287C>T	ENST00000358691.5	-	31	5405	c.5239G>A	c.(5239-5241)Gag>Aag	p.E1747K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1748K	NM_014877.3	NP_055692.2			helicase with zinc finger									p.E1747K(2)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACATTTACCTCTTCTAAGCTA	0.328000													107	138					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23810997	23810997	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:23810997C>T	ENST00000314520.3	+	1	544	c.68C>T	c.(67-69)gCa>gTa	p.A23V	MKRN3_ENST00000564592.1_Missense_Mutation_p.A23V|MKRN3_ENST00000568252.1_Missense_Mutation_p.A23V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	23						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A23V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTGAGGCAGCAAGGGAGGGT	0.667000													9	11					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599727	3599727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:3599727A>T	ENST00000302006.3	+	2	717	c.665A>T	c.(664-666)gAg>gTg	p.E222V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E222V(2)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACGACGAGGAGATCGACCTG	0.632000													5	26					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729639	15729639	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:15729639C>T	ENST00000396368.3	-	3	911	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIAA0430_ENST00000540441.2_Silent_p.G235G|KIAA0430_ENST00000548025.1_Silent_p.G235G|KIAA0430_ENST00000602337.1_Silent_p.G235G|KIAA0430_ENST00000551742.1_Silent_p.G235G|KIAA0430_ENST00000344181.3_Silent_p.G57G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	234						peroxisome	nucleotide binding|RNA binding	p.G235G(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTCCAAATGCCCTGGAGCCC	0.522000													30	58					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874285	155874285	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:155874285A>C	ENST00000368323.3	-	5	450	c.246T>G	c.(244-246)ttT>ttG	p.F82L	RIT1_ENST00000539040.1_Missense_Mutation_p.F46L|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.F99L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	82					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.F82L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGCTGTAAACTCTGCCT	0.423000													43	69					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267478	71267478	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:71267478C>A	ENST00000554752.2	-	2	725	c.726G>T	c.(724-726)ctG>ctT	p.L242L	MAP3K9_ENST00000555993.2_Silent_p.L242L|MAP3K9_ENST00000381250.4_Silent_p.L242L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	242	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.L242L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCAATTCACCAGGATGTCTG	0.493000													11	87					5.50884e-06	5.82912e-06	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12761005	12761005	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:12761005A>C	ENST00000456935.2	-	17	2118	c.2078T>G	c.(2077-2079)tTc>tGc	p.F693C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.F692C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	693					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.F693C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGCTGAGAAGTTCTGGTG	0.612000													62	39					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469163	86469163	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:86469163C>T	ENST00000361669.2	+	4	3432	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.T370M|GRM3_ENST00000536043.1_Missense_Mutation_p.T650M	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	778					synaptic transmission	integral to plasma membrane		p.T778M(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTACACCACGTGCATCATC	0.408000													44	245					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412214	178412214	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:178412214G>T	ENST00000448150.3	+	8	2096	c.1278G>T	c.(1276-1278)ctG>ctT	p.L426L	RASAL2_ENST00000367649.3_Silent_p.L444L|RASAL2_ENST00000462775.1_Silent_p.L296L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	296	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L426L(2)|p.L296L(2)|p.L444L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCACCATTCTGCCTATGGAGC	0.413000													52	295					5.10508e-28	6.11267e-28	1	1	0
BBS7	55212	broad.mit.edu	37	4	122782798	122782798	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:122782798T>A	ENST00000264499.4	-	4	385	c.202A>T	c.(202-204)Agg>Tgg	p.R68W	BBS7_ENST00000506636.1_Missense_Mutation_p.R68W	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	68					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R68W(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCCAGCCTTGCAATCTTC	0.398000									Bardet-Biedl syndrome				22	25					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275347	71275347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:71275347G>T	ENST00000399575.2	+	3	476	c.302G>T	c.(301-303)gGt>gTt	p.G101V	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCTTTCCGGGTTATCCAAAC	0.403000													210	361					4.15448e-123	5.7866e-123	1	1	0
PCNX	22990	broad.mit.edu	37	14	71444881	71444881	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:71444881T>C	ENST00000304743.2	+	6	2273	c.1827T>C	c.(1825-1827)agT>agC	p.S609S	PCNX_ENST00000238570.5_Silent_p.S609S|PCNX_ENST00000439984.3_Silent_p.S609S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	609	Ser-rich.					integral to membrane		p.S609S(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGACTTGAGTAGAGCATCAA	0.473000													100	125					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289671	18289671	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:18289671T>C	ENST00000377369.2	+	11	1949	c.1676T>C	c.(1675-1677)aTa>aCa	p.I559T	SLC39A12_ENST00000539911.1_Missense_Mutation_p.I425T|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I558T|SLC39A12_ENST00000377374.4_Missense_Mutation_p.I522T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	559					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.I522T(2)		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						GGCCTAGCCATAGGAGCAGCC	0.438000													89	197					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600241	29600241	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:29600241T>C	ENST00000431530.3	+	1	1494	c.1436T>C	c.(1435-1437)gTt>gCt	p.V479A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	469						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.V479A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGTTATGGTTTTGGTGTTC	0.507000													88	57					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456009	65456009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:65456009G>T	ENST00000330909.8	-	5	907	c.908C>A	c.(907-909)cCt>cAt	p.P303H	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.P303H|MAGI1_ENST00000497477.2_Missense_Mutation_p.P303H|MAGI1_ENST00000483466.1_Missense_Mutation_p.P303H	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	303	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P303H(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTTTTCAGGTAGAGGACC	0.413000													76	70					1.19347e-43	1.51543e-43	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862789	10862789	+	RNA	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:10862789G>C	ENST00000559480.1	+	0	85																		p.E29*(1)|p.E29Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCTGGGGCTGAGGTGAAGAA	0.562000													24	349					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814179	60814179	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:60814179A>C	ENST00000544856.2	-	7	1425	c.1047T>G	c.(1045-1047)agT>agG	p.S349R	MARCH10_ENST00000583600.1_Missense_Mutation_p.S388R|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S350R|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S350R			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	350							ligase activity|zinc ion binding	p.S350R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGAGCCATGACTGGGCTCAC	0.483000													39	211					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609691	158609691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:158609691C>A	ENST00000368148.3	-	34	5024	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1615I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1615					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1615I(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCCGGATGCTTGTGTTGAA	0.448000													104	153					1.81606e-51	2.37217e-51	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178310735	178310735	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:178310735A>G	ENST00000462775.1	+	1	130	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	RASAL2_ENST00000448150.3_Intron|RASAL2_ENST00000367649.3_Intron	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	2					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.Q2R(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CACACGATGCAGACCCCAGGT	0.428000													42	82					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75881899	75881899	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:75881899C>T	ENST00000393909.2	+	5	538	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MRPL19_ENST00000409374.1_Silent_p.V171V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	171					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.V171V(2)		kidney(1)|large_intestine(1)|lung(6)	8						ATCCTCGGGTCCAGGAGATTC	0.378000													79	342					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755587	77755587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:77755587G>A	ENST00000310942.4	+	4	379	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CBX2_ENST00000269399.5_Missense_Mutation_p.R92H	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	92	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R92H(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCAGCCGGCGCTCCAAGCTC	0.657000													3	16					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779384	229779384	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:229779384A>T	ENST00000258243.2	+	5	3875	c.3739A>T	c.(3739-3741)Atg>Ttg	p.M1247L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1247						nucleolus		p.M1247L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGGCTGGTGATGCAGTGTAT	0.512000													70	217					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752748	49752748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:49752748C>A	ENST00000492622.2	+	14	1880	c.1575C>A	c.(1573-1575)taC>taA	p.Y525*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Y469*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Y525*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	525	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.Y525*(2)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCTTGCTTACACAGTGAAAA	0.343000													44	46					2.76378e-25	3.25221e-25	1	1	0
MYLK	4638	broad.mit.edu	37	3	123375980	123375980	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:123375980T>C	ENST00000360772.3	-	25	4659	c.4281A>G	c.(4279-4281)aaA>aaG	p.K1427K	MYLK_ENST00000360304.3_Silent_p.K1427K|MYLK_ENST00000359169.1_Silent_p.K1427K|MYLK_ENST00000354792.5_Silent_p.K227K|MYLK_ENST00000346322.5_Silent_p.K1358K|MYLK_ENST00000475616.1_Silent_p.K1427K			Q15746	MYLK_HUMAN	myosin light chain kinase	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K1427K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCTTCAGGTTTCTCTCCTA	0.478000													97	120					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032335	10032335	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:10032335T>C	ENST00000396573.2	-	4	797	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAATCCTGCATGATCTT	0.498000													140	274					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92526040	92526040	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:92526040G>A	ENST00000298047.6	+	8	4736	c.4719G>A	c.(4717-4719)gcG>gcA	p.A1573A	FAT3_ENST00000409404.2_Silent_p.A1573A|FAT3_ENST00000525166.1_Silent_p.A1423A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1573A(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATGAAGCGTCTGTGTTTG	0.438000										TCGA Ovarian(4;0.039)			36	286					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773418	141773418	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141773418G>T	ENST00000389484.3	-	13	3008	c.2037C>A	c.(2035-2037)gcC>gcA	p.A679A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATCCAGGCCTTCTCAA	0.413000										TSP Lung(27;0.18)			70	189					2.25582e-47	2.87775e-47	1	1	0
HEATR3	55027	broad.mit.edu	37	16	50134194	50134194	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:50134194T>G	ENST00000299192.7	+	13	1844	c.1653T>G	c.(1651-1653)agT>agG	p.S551R	HEATR3_ENST00000285767.4_Missense_Mutation_p.S465R	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	551							binding	p.S551R(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCATAGTAGTAATGTCGGGG	0.378000													71	149					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915812	26915812	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:26915812T>C	ENST00000231021.4	-	3	621	c.449A>G	c.(448-450)cAt>cGt	p.H150R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	150	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H150R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGATATCATGTATTTTAAT	0.388000													88	177					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125912853	125912853	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:125912853T>A	ENST00000409134.3	-	6	787	c.568A>T	c.(568-570)Atc>Ttc	p.I190F	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I217F|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I190F	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	190					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.I162F(2)|p.I217F(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GCCGTGATGATTCCAACCAGG	0.483000													48	37					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825245	43825245	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:43825245T>G	ENST00000389420.3	-	22	3150	c.3151A>C	c.(3151-3153)Aat>Cat	p.N1051H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N205H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1051H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1051	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding	p.N1051H(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGATCTACATTCAGCTGACAC	0.413000													123	246					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966252	2966252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:2966252G>A	ENST00000575751.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217F(4)|p.S217Y(2)		kidney(1)|lung(10)	11						ACGTACATAGGATGTGGTCAT	0.507000													48	54					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676027	33676027	+	RNA	SNP	C	C	A	rs855465	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:33676027C>A	ENST00000532280.1	-	0	1470					NR_023917.1																						GCAAGTTCCGCCACTGAACAT	0.418000													7	140					1.06961e-07	1.16336e-07	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10032336	10032336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:10032336G>T	ENST00000396573.2	-	4	796	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6K|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAATCCTGCATGATCTTC	0.498000													140	275					1.45191e-84	1.99181e-84	1	1	0
AKT3	10000	broad.mit.edu	37	1	243809209	243809209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:243809209G>A	ENST00000366539.1	-	5	615	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	AKT3_ENST00000263826.5_Missense_Mutation_p.H139Y|AKT3_ENST00000336199.5_Missense_Mutation_p.H139Y|AKT3_ENST00000366540.1_Missense_Mutation_p.H139Y			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	139					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.H139Y(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTTTATGATGGGTTGTAGAG	0.378000													56	67					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980917	40980917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:40980917G>T	ENST00000373198.3	-	10	1804	c.1569C>A	c.(1567-1569)taC>taA	p.Y523*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y523*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	523	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y523*(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGACAGCCTTGTAGTTGATCT	0.532000													19	135					3.11337e-16	3.55628e-16	1	1	0
RP11-464F9.1	0	broad.mit.edu	37	10	75487081	75487081	+	RNA	SNP	C	C	T	rs7099599	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:75487081C>T	ENST00000399449.3	-	0	396				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							CCTCTGATCTCGGTCAACTTC	0.517000													6	92					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910104	910104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:910104C>A	ENST00000316157.3	-	3	288	c.248G>T	c.(247-249)tGg>tTg	p.W83L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CACCTCCTCCCATGCAGCACT	0.592000													61	63					1.25742e-37	1.57466e-37	1	1	0
EVI5	7813	broad.mit.edu	37	1	93089858	93089858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:93089858C>A	ENST00000370331.1	-	14	1663	c.1654G>T	c.(1654-1656)Gac>Tac	p.D552Y	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.D563Y|EVI5_ENST00000540033.1_Missense_Mutation_p.D552Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	552	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.D552Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTGGGTGGGTCTTTCCATCTC	0.353000													55	240					5.0973e-17	5.87158e-17	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30804833	30804833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:30804833A>G	ENST00000383096.3	-	17	1906	c.1724T>C	c.(1723-1725)aTa>aCa	p.I575T	CCDC178_ENST00000583930.1_Missense_Mutation_p.I575T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I575T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I575T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I575T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.I575T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I575T					coiled-coil domain containing 178									p.I575T(4)									CATGGCACATATTGCTCTATT	0.378000													19	38					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955474	55955474	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55955474C>G	ENST00000373965.2	-	11	1668	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	PCDH15_ENST00000395446.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395433.1_Missense_Mutation_p.R403T|PCDH15_ENST00000395440.1_Missense_Mutation_p.R425T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R425T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R425T|PCDH15_ENST00000320301.6_Missense_Mutation_p.R425T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R425T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R29T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R425T|PCDH15_ENST00000373957.3_Missense_Mutation_p.R403T|PCDH15_ENST00000395430.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R388T|PCDH15_ENST00000395438.1_Missense_Mutation_p.R425T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R430T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R430T(4)|p.R425T(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTACTATTCTTAAAGGTGA	0.368000										HNSCC(58;0.16)			95	357					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186244912	186244912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:186244912A>T	ENST00000504273.1	+	9	1509	c.1215A>T	c.(1213-1215)gaA>gaT	p.E405D	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E405D			Q9H3E2	SNX25_HUMAN	sorting nexin 25	405					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E405D(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAAAAGAGGAAGAAAAACATG	0.338000													27	67					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920368	113920368	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:113920368T>C	ENST00000348367.4	-	16	1950	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	GPAM_ENST00000369425.1_Missense_Mutation_p.I585V|GPAM_ENST00000423155.1_Missense_Mutation_p.I585V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	585					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.I585V(2)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ATACCTATGATGGCCTCCATG	0.393000													49	141					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733434	152733434	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:152733434T>C	ENST00000368773.1	+	2	1428	c.1370T>C	c.(1369-1371)aTt>aCt	p.I457T	KPRP_ENST00000606109.1_Missense_Mutation_p.I457T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	457	Pro-rich.					cytoplasm		p.I457T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGTGAGATTCCAGAGCCA	0.622000													130	256					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255663	70255663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:70255663G>A	ENST00000342771.4	+	19	3782	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1130H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1154	His-rich.							p.R1154H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCGGGAGCGCTTGCACATG	0.692000													5	16					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55364093	55364093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:55364093C>A	ENST00000398661.2	-	7	768	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.V183L|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.V151L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	213							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.V213L(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACAAGACACATACCTAAAT	0.323000													47	155					1.64591e-14	1.85675e-14	1	1	0
TXNDC11	51061	broad.mit.edu	37	16	11827847	11827847	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:11827847T>C	ENST00000356957.3	-	3	667	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.Y187C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	187	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.Y187C(2)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCCGATGATACAGATATAT	0.333000													28	48					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89172497	89172497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:89172497C>T	ENST00000332810.3	+	3	732	c.581C>T	c.(580-582)gCg>gTg	p.A194V	AEN_ENST00000379231.3_Missense_Mutation_p.A194V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	194	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGGGCACGCGCTGCACAAC	0.612000													9	141					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188680	57188680	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:57188680A>G	ENST00000331162.4	-	5	712	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C148R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGACAAACATTGGTTAACT	0.308000													51	85					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66618624	66618624	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:66618624T>C	ENST00000393960.1	-	17	2391	c.2110A>G	c.(2110-2112)Atc>Gtc	p.I704V	PC_ENST00000393958.2_Missense_Mutation_p.I704V|PC_ENST00000393955.2_Missense_Mutation_p.I704V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	704	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.I704V(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGTATGAGATGGCAGCCTCC	0.612000													25	19					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349754	30349754	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:30349754G>T	ENST00000359358.4	-	2	1239	c.801C>A	c.(799-801)gcC>gcA	p.A267A	KLHL14_ENST00000358095.4_Silent_p.A267A	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	267	BACK.					cytosol|endoplasmic reticulum membrane		p.A267A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCGGGATGAGGGCGAAGCGGA	0.652000													6	13					0.0293803	0.0298172	1	1	0
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	G	A	rs145360326	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:141693948G>A	ENST00000344120.4	-	3	981	c.795C>T	c.(793-795)tcC>tcT	p.S265S	SPRY4_ENST00000434127.2_Silent_p.S242S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682000									Testicular Cancer, Familial Clustering of				10	5					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969656	118969656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:118969656C>T	ENST00000334549.1	+	3	1001	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTAGAACACCCTAACTTCTTC	0.418000													79	131					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544261	103544261	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:103544261G>T	ENST00000358392.2	-	3	758	c.441C>A	c.(439-441)gcC>gcA	p.A147A	COL11A1_ENST00000512756.1_Silent_p.A147A|COL11A1_ENST00000353414.4_Silent_p.A147A|COL11A1_ENST00000370096.3_Silent_p.A147A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	147	TSP N-terminal.				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	p.A147A(4)		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)		AGTCTTCTGGGGCAGGTTTTC	0.368000													43	70					2.01872e-29	2.44937e-29	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35750491	35750491	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:35750491A>G	ENST00000187397.4	+	11	1282	c.826A>G	c.(826-828)Aga>Gga	p.R276G	ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	276						cytoplasm	nucleic acid binding	p.R276G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAGAGATGACAGACGAAGTAA	0.378000													23	80					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297637	10297637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:10297637C>A	ENST00000403437.2	-	35	5189	c.5095G>T	c.(5095-5097)Gag>Tag	p.E1699*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1699					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1699*(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTTCTCTCTGTCTGTTCC	0.587000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				71	71					9.7435e-18	1.12711e-17	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:226924682C>A	ENST00000429204.1	-	2	805	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	ITPKB_ENST00000366784.1_Missense_Mutation_p.A160S|ITPKB_ENST00000272117.3_Missense_Mutation_p.A160S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A160S(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652000													5	19					0.0381472	0.0384288	1	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70594557	70594557	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:70594557A>C	ENST00000260126.3	-	7	2350	c.1644T>G	c.(1642-1644)caT>caG	p.H548Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.H548Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.H493Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	548						integral to membrane|plasma membrane	transporter activity	p.H548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGATTCCTATGGGGCATGG	0.388000													118	362					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811966	129811966	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:129811966C>T	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TGACTCTTGACGGACAGAACC	0.413000													9	60					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477490	74477490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:74477490C>A	ENST00000394019.2	-	17	2030	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D545Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D481Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	545						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.D545Y(4)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGGTGGCATCCCCCAGAAGC	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	104					3.52157e-22	4.12613e-22	1	1	0
SSRP1	6749	broad.mit.edu	37	11	57100472	57100472	+	Silent	SNP	G	G	A	rs113062066	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:57100472G>A	ENST00000278412.2	-	5	764	c.498C>T	c.(496-498)taC>taT	p.Y166Y		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	166					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.Y166Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGGTGGGACGTAGAAGCGCA	0.582000													4	57					0	0	1	0	0
UBE2J1	51465	broad.mit.edu	37	6	90042806	90042806	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:90042806G>T	ENST00000435041.2	-	7	955	c.678_splice	c.e7+1	p.S226_splice		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	226						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S226*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GAGCCATACCGATGTACTGGC	0.363000													6	164					0.00198382	0.00205145	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86898148	86898148	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:86898148C>T	ENST00000370565.4	+	5	843	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	227					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.T227T(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGGATGCACCTTTATCTACA	0.378000													152	204					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327504	57327504	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:57327504T>C	ENST00000326441.9	-	10	2669	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	PEG3_ENST00000598410.1_Missense_Mutation_p.Y645C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y769C|PEG3_ENST00000593695.1_Missense_Mutation_p.Y643C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	769					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y769C(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGCCTCATAGACATTTTC	0.418000													171	142					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21385084	21385084	+	Missense_Mutation	SNP	A	A	T	rs150636116		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:21385084A>T	ENST00000380206.2	-	1	312	c.245T>A	c.(244-246)aTg>aAg	p.M82K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	82					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.M82K(2)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGCTGGATCATCTCATGGAG	0.483000													41	99					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768627	31768627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:31768627C>A	ENST00000355459.2	+	1	236	c.223C>A	c.(223-225)Ccc>Acc	p.P75T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament		p.P75T(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGTCCAGCCCCTGCCAGAC	0.612000													53	73					4.6707e-30	5.71794e-30	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61956845	61956845	+	Splice_Site	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:61956845A>G	ENST00000422202.1	+	27	3436	c.3369_splice	c.e27+1	p.Q1123_splice	COL20A1_ENST00000435874.1_Splice_Site_p.Q1123_splice|COL20A1_ENST00000358894.6_Splice_Site_p.Q1116_splice|COL20A1_ENST00000326996.6_Splice_Site_p.Q1148_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1116	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity	p.Q1116R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAGGCTTGCAGGTAGTGTGG	0.682000													2	6					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530913	55530913	+	Silent	SNP	C	C	T	rs41521545	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:55530913C>T	ENST00000219070.4	+	10	2057	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	MMP2_ENST00000543485.1_Silent_p.L440L|MMP2_ENST00000570308.1_Silent_p.L440L|MMP2_ENST00000437642.2_Silent_p.L466L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	516	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.L516L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGCCTGAGCTCCCGGAAAAGA	0.612000													13	128					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255950	72255950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:72255950G>T	ENST00000305425.4	-	2	1369	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	DACH1_ENST00000359684.2_Missense_Mutation_p.S316Y|DACH1_ENST00000313174.7_Missense_Mutation_p.S316Y|DACH1_ENST00000354591.4_Missense_Mutation_p.S316Y	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S316Y(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATCCCAGGAGACATGAGACC	0.438000													90	68					1.30488e-61	1.75484e-61	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142503717	142503717	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:142503717A>T	ENST00000273482.6	+	6	1421	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R378*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	378					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R344*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCAGTTTGGCAGAATCATTCA	0.368000													78	179					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488886	70488886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:70488886C>A	ENST00000310961.5	+	18	1942	c.1524C>A	c.(1522-1524)tgC>tgA	p.C508*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.C503*|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	503						centrosome|focal adhesion|nucleolus	protein binding	p.C503*(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGGCGATTGCTGCACACCAT	0.582000													18	87					2.37509e-13	2.64653e-13	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141819658	141819658	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141819658G>T	ENST00000389484.3	-	8	2169	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTTCCTTGATAGTCCACT	0.393000										TSP Lung(27;0.18)			152	391					2.49681e-90	3.44257e-90	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166010962	166010962	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:166010962C>T	ENST00000360093.3	-	11	1871	c.1380_splice	c.e11+1	p.Q460_splice	SCN3A_ENST00000409101.3_Splice_Site_p.Q460_splice|SCN3A_ENST00000283254.7_Splice_Site_p.Q460_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q460Q(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACTCAGTACCTGAGCTTCTT	0.368000													31	112					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142170817	142170817	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:142170817G>T	ENST00000519811.1	+	9	1353	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	DENND3_ENST00000262585.2_Missense_Mutation_p.R348L|DENND3_ENST00000424248.1_Intron			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	348								p.R348L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACCGGCGGTCCTGGCAG	0.617000													12	32					8.60227e-14	9.62468e-14	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26596529	26596529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:26596529C>T	ENST00000381340.3	-	46	6813	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2133					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.D2133N(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCCTTCATCTGGATCCGAT	0.403000													40	75					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96416742	96416742	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:96416742C>G	ENST00000359246.4	+	7	1204	c.837C>G	c.(835-837)tcC>tcG	p.S279S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	279	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S279S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAACATCTCCCTGTATGAGC	0.602000													11	9					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12506572	12506572	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:12506572C>A	ENST00000409402.4	-	6	1143	c.876G>T	c.(874-876)cgG>cgT	p.R292R	SPIRE1_ENST00000309836.5_Silent_p.R95R|SPIRE1_ENST00000453447.2_Silent_p.R172R|SPIRE1_ENST00000410092.3_Silent_p.R292R|SPIRE1_ENST00000383356.2_Silent_p.R133R	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	292						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.R292R(2)|p.R133R(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGTTGTACTGCCGCTCTTGGA	0.443000													179	342					4.03399e-77	5.47901e-77	1	1	0
IARS	3376	broad.mit.edu	37	9	94973152	94973152	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:94973152G>A	ENST00000375643.3	-	34	3992	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	IARS_ENST00000443024.2_Silent_p.P1242P|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Silent_p.P1132P	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1242					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.P1242P(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTCTTCACGGGGATGTCTT	0.353000													47	47					0	0	1	0	0
LOC728715	728715	broad.mit.edu	37	12	9713438	9713438	+	RNA	SNP	T	T	C	rs76076453	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:9713438T>C	ENST00000520314.1	+	0	633																											TTTTAAGACATTGGAGAGAAT	0.353000													3	22					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37708205	37708205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:37708205G>T	ENST00000248901.6	+	12	1289	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	368	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E368*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGTGGATCGAGTCCATCCG	0.607000													32	52					3.54561e-26	4.20848e-26	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55587214	55587214	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55587214G>A	ENST00000373965.2	-	33	4721	c.4327C>T	c.(4327-4329)Ccg>Tcg	p.P1443S	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1411S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1436S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1365S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1436S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1047S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1443S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1433S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1396S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1436S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1438S|PCDH15_ENST00000463095.1_5'UTR	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1436S(4)|p.P1438S(2)|p.P1441S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggcggcggcgggggcgCTGCC	0.587000										HNSCC(58;0.16)			5	6					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39991296	39991296	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:39991296A>T	ENST00000205143.4	+	3	400	c.393A>T	c.(391-393)ttA>ttT	p.L131F	DLL3_ENST00000356433.5_Missense_Mutation_p.L131F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	131					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.L131F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAGGAGTTAGGAGACCAGA	0.517000													20	26					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97158873	97158873	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:97158873G>T	ENST00000524981.3	+	27	3511	c.3511G>T	c.(3511-3513)Gca>Tca	p.A1171S				Q6ZTY8	CL063_HUMAN		1145								p.A1145S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCTGTGCTGGCAATTAACTT	0.299000													70	108					7.7321e-48	9.9569e-48	1	1	0
XIST	7503	broad.mit.edu	37	X	73063798	73063798	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:73063798T>C	ENST00000429829.1	-	0	8790					NR_001564.2																						GAAGGGGCCTTGGAGGGAAAC	0.388000													9	6					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598911	62598911	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:62598911A>G	ENST00000512091.1	+	7	1581	c.834A>G	c.(832-834)acA>acG	p.T278T	LPHN3_ENST00000506700.1_Silent_p.T278T|LPHN3_ENST00000511324.1_Silent_p.T346T|LPHN3_ENST00000504896.1_Silent_p.T278T|LPHN3_ENST00000506746.1_Silent_p.T346T|LPHN3_ENST00000508946.1_Silent_p.T278T|LPHN3_ENST00000509896.1_Silent_p.T346T|LPHN3_ENST00000507164.1_Silent_p.T346T|LPHN3_ENST00000507625.1_Silent_p.T346T|LPHN3_ENST00000514996.1_Silent_p.T278T|LPHN3_ENST00000545650.1_Silent_p.T278T|LPHN3_ENST00000514157.1_Silent_p.T278T|LPHN3_ENST00000508693.1_Silent_p.T346T|LPHN3_ENST00000506720.1_Silent_p.T346T|LPHN3_ENST00000514591.1_Silent_p.T278T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	278	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T278T(3)		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						TCTATGCAACAGAACAAAACA	0.428000													28	50					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201205	123201205	+	Missense_Mutation	SNP	G	G	A	rs148858491	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:123201205G>A	ENST00000528880.2	-	1	234	c.80C>T	c.(79-81)gCc>gTc	p.A27V	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	27						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A27V(3)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CAACACCTTGGCAATGAAGTC	0.507000													4	78					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853343	70853343	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:70853343A>G	ENST00000333538.5	+	3	1179	c.545A>G	c.(544-546)cAc>cGc	p.H182R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	182	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.H182R(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACGCCCACACACCTGCTGAAG	0.557000													116	223					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813655	106813655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:106813655C>G	ENST00000407775.2	+	8	1595	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L180V|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	449					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L449V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGCTCTTTCTCACGAACCA	0.463000													10	83					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169621556	169621556	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:169621556G>C	ENST00000366787.3	-	21	3589	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1114	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L1114V(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGTGAGTCAGGTGCCACCTA	0.547000													14	19					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120814149	120814149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:120814149G>C	ENST00000378164.2	-	6	975	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	226					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T226S(4)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATATCATGAGTATACACTGT	0.378000													108	288					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072028	197072028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:197072028C>A	ENST00000367409.4	-	18	6609	c.6353G>T	c.(6352-6354)aGg>aTg	p.R2118M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2118	IQ 16.|IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2118M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGTGGCTGCCCTGTGCATGTG	0.328000													92	191					4.58075e-42	5.78955e-42	1	1	0
AXIN1	8312	broad.mit.edu	37	16	343556	343556	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:343556C>T	ENST00000262320.3	-	8	2489	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	AXIN1_ENST00000354866.3_Silent_p.Q706Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	706	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Q706Q(3)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCCTCCAGCTGGGTTAGGG	0.682000													3	2					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739538	20739538	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:20739538A>T	ENST00000404938.2	+	18	2897	c.2245A>T	c.(2245-2247)Agt>Tgt	p.S749C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S304C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	304	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S304C(1)|p.S749C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGCTTTGTCAGTTATTTCAT	0.294000													15	116					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935547	155935547	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:155935547G>A	ENST00000368316.1	-	9	734	c.264C>T	c.(262-264)acC>acT	p.T88T	ARHGEF2_ENST00000368315.3_Silent_p.T116T|ARHGEF2_ENST00000313667.4_Silent_p.T115T|ARHGEF2_ENST00000313695.7_Silent_p.T88T|ARHGEF2_ENST00000361247.4_Silent_p.T115T			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	115					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.T88T(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCCCGGATGGTTGCTGTGG	0.622000													9	17					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:103477982C>A	ENST00000358392.2	-	14	1969	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	COL11A1_ENST00000512756.1_Missense_Mutation_p.R423I|COL11A1_ENST00000353414.4_Missense_Mutation_p.R500I|COL11A1_ENST00000370096.3_Missense_Mutation_p.R539I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	539	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	p.R539I(2)|p.R551I(2)|p.R539T(1)|p.R551T(1)		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)		AGGACCTGGTCTTCCAGTTAG	0.398000													14	35					5.3912e-06	5.74921e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032086	141032086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141032086C>A	ENST00000389484.3	-	85	14020	c.13049G>T	c.(13048-13050)cGc>cTc	p.R4350L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4350	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4350L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTTCATAGCGCGTTGGACA	0.423000										TSP Lung(27;0.18)			111	184					5.62627e-71	7.60382e-71	1	1	0
EPHA7	2045	broad.mit.edu	37	6	93956601	93956601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:93956601C>T	ENST00000369303.4	-	15	2819	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	879	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E879K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGCCTTTCAGCACGCTCC	0.418000													70	105					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060902	76060902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:76060902C>T	ENST00000335749.4	+	4	3055	c.2486C>T	c.(2485-2487)gCa>gTa	p.A829V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A832V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A832V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A832V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	832	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A829V(2)|p.A832V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGGCACAGCAGCATGGGGG	0.577000													27	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			40	17					6.57855e-14	7.39071e-14	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477349	110477349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:110477349G>T	ENST00000378402.5	+	49	8392	c.8288G>T	c.(8287-8289)tGt>tTt	p.C2763F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2763					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2765F(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTGGAGTTTGTAATGACAGA	0.468000										HNSCC(38;0.096)			99	345					1.54984e-59	2.06394e-59	1	1	0
LTN1	26046	broad.mit.edu	37	21	30339448	30339448	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:30339448C>T	ENST00000361371.4	-	10	1515	c.1365G>A	c.(1363-1365)caG>caA	p.Q455Q	LTN1_ENST00000389194.2_Silent_p.Q501Q|LTN1_ENST00000389195.2_Silent_p.Q501Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	455							ligase activity|zinc ion binding	p.Q455Q(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGTTAAATAGCTGCCCATGTT	0.378000													48	84					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591351	87591351	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:87591351G>C	ENST00000320005.5	-	16	1958	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637					signal transduction|visual perception	integral to membrane	cGMP binding	p.I637M(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTCATGAGGATCCTTTCAG	0.408000													194	160					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19124931	19124931	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:19124931G>A	ENST00000252137.6	-	8	983	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	314					nervous system development	catalytic step 2 spliceosome		p.P314S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCATCATCGGGGACTCGTTC	0.592000													48	61					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122289	141122289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141122289C>T	ENST00000389484.3	-	72	12043	c.11072G>A	c.(11071-11073)tGg>tAg	p.W3691*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3691	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W3691*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCACACACCCAGAAATGTAG	0.383000										TSP Lung(27;0.18)			22	87					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852501	110852501	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:110852501C>A	ENST00000485303.1	+	6	1364	c.1089C>A	c.(1087-1089)acC>acA	p.T363T	PVRL3_ENST00000319792.3_Intron|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	363					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.T363T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CTACTACCACCCTTCAGCCTA	0.438000													7	108					0.00621372	0.00635335	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68139538	68139538	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:68139538T>A	ENST00000262215.3	-	27	4139	c.3750A>T	c.(3748-3750)ccA>ccT	p.P1250P	ARFGEF1_ENST00000518230.1_Silent_p.P88P|ARFGEF1_ENST00000520381.1_Silent_p.P704P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1250					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P1250P(2)		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)			CTCGAATTGTTGGAGACCTAA	0.368000													91	263					0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1066945	1066945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:1066945C>A	ENST00000433731.2	-	10	672	c.611G>T	c.(610-612)tGg>tTg	p.W204L	RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212	204							zinc ion binding	p.W204L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAAGGTCAACCATGGGATGAA	0.552000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	200					1.64933e-60	2.2072e-60	1	1	0
USP47	55031	broad.mit.edu	37	11	11964023	11964023	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:11964023A>T	ENST00000339865.5	+	19	3014	c.2251A>T	c.(2251-2253)Agg>Tgg	p.R751W	USP47_ENST00000539466.1_De_novo_Start_InFrame|USP47_ENST00000399455.2_Missense_Mutation_p.R839W|USP47_ENST00000527733.1_Missense_Mutation_p.R819W	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	839					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.R751W(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTCCAAAAGGACAGCATA	0.423000													7	112					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819657	141819657	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141819657T>A	ENST00000389484.3	-	8	2170	c.1199A>T	c.(1198-1200)cAa>cTa	p.Q400L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTTCCTTGATAGTCCAC	0.393000										TSP Lung(27;0.18)			151	390					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246674	113246674	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:113246674A>G	ENST00000297405.5	-	68	10904	c.10660T>C	c.(10660-10662)Tta>Cta	p.L3554L	CSMD3_ENST00000352409.3_Silent_p.L3484L|CSMD3_ENST00000343508.3_Silent_p.L3514L|CSMD3_ENST00000455883.2_Silent_p.L3385L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3554						integral to membrane|plasma membrane		p.L3514L(2)|p.L3554L(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATATGCGTAACATTAGGCGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			115	381					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910105	910105	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:910105A>T	ENST00000316157.3	-	3	287	c.247T>A	c.(247-249)Tgg>Agg	p.W83R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCTCCTCCCATGCAGCACTC	0.587000													63	64					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96861114	96861114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:96861114C>A	ENST00000337288.5	-	2	847	c.464G>T	c.(463-465)cGc>cTc	p.R155L	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	155	START.					mitochondrion		p.R80L(1)|p.R155L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TGTAATTGGGCGCCGCCACAG	0.493000													6	23					0.00448238	0.0046177	1	1	0
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:50278670G>C	ENST00000442544.2	+	2	954	c.338G>C	c.(337-339)gGa>gCa	p.G113A	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	113	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G113A(2)|p.G113V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGATGAGGGACTTTACCAA	0.448000													175	112					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96330222	96330222	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:96330222G>C	ENST00000324765.8	+	19	2556	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	DIAPH2_ENST00000355827.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E733Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E737Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	737	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.E737Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTTATTCTGGAGGTTAATGA	0.313000													98	52					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523941	43523941	+	Missense_Mutation	SNP	C	C	A	rs220111	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:43523941C>A	ENST00000329015.2	-	2	443	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						GTCGTGAAGACGTTGATGGAT	0.537000													4	24					0.00909568	0.00926538	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512000										HNSCC(3;0.000094)			59	113					7.577e-32	9.31766e-32	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57244775	57244775	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:57244775G>A	ENST00000607273.1	+	6	623	c.536G>A	c.(535-537)gGg>gAg	p.G179E	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	179					DNA replication, synthesis of RNA primer|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	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.G179E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTAAGTTGGGGTTCGAGTCC	0.318000													8	56					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973886	44973886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:44973886G>A	ENST00000340446.4	-	1	2596	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	769						cilium		p.P769S(2)		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)		TTTACTGCTGGAATTCCTGCC	0.408000													47	195					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013604	6013604	+	Silent	SNP	T	T	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:6013604T>G	ENST00000259569.5	-	1	2014	c.2004A>C	c.(2002-2004)gtA>gtC	p.V668V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	668					protein transport	cytoplasm|nucleus	binding	p.V668V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCCAAGATTTACAAATTGCC	0.413000													5	46					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286349	152286349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:152286349G>T	ENST00000368799.1	-	3	1048	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	338	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S338Y(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATCATGGGACCTGGGGTG	0.562000									Ichthyosis				113	182					3.89347e-56	5.13487e-56	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49998266	49998266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:49998266C>T	ENST00000257894.2	-	2	313	c.152G>A	c.(151-153)cGc>cAc	p.R51H	FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.R51H|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	51						protein complex		p.R51H(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCTGGAAGCGGTTGATGAC	0.408000													30	182					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001659	177001659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:177001659G>T	ENST00000367654.2	-	3	811	c.798C>A	c.(796-798)agC>agA	p.S266R	ASTN1_ENST00000361833.2_Missense_Mutation_p.S266R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S266R|ASTN1_ENST00000367657.3_Missense_Mutation_p.S266R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	266					cell migration|neuron cell-cell adhesion	integral to membrane		p.S266R(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGTGACCTGGCTGGCAAAGT	0.597000													129	195					4.0349e-81	5.50763e-81	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26822793	26822793	+	Missense_Mutation	SNP	G	G	A	rs11568476	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:26822793G>A	ENST00000444914.3	+	10	1996	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V434M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V406M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V477M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	477						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.V477M(1)|p.V526M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CACTAGCAACGTGGCCACCAC	0.632000													4	95					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73539147	73539147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:73539147C>T	ENST00000224721.6	+	40	5331	c.5326C>T	c.(5326-5328)Cga>Tga	p.R1776*		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1771	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R1776*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCCCATGACCGAGACTCAGG	0.622000													3	40					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:11501681C>T	ENST00000423059.3	-	10	2709	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.					integral to membrane		p.E820K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)			200	421					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795413	66795413	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:66795413G>C	ENST00000307961.6	-	3	357	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q89E(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AAAGCACCCTGGCCAGAGCGG	0.493000													32	67					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107650	35107650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:35107650C>A	ENST00000378561.1	-	2	3677	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	FAM214B_ENST00000378554.2_Missense_Mutation_p.G208W|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208W|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208W|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208W|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Missense_Mutation_p.G208W|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208W			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									AGGCTACCCCCATTGCCCACC	0.657000													10	18					4.68919e-08	5.12059e-08	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188216867	188216867	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:188216867T>C	ENST00000409998.1	-	14	1883	c.1102A>G	c.(1102-1104)Atc>Gtc	p.I368V	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I368V|CALCRL_ENST00000410068.1_Missense_Mutation_p.I368V|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	368						integral to plasma membrane		p.I368V(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGTGCATGATGTAGTCATAT	0.413000													102	187					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839787	27839787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:27839787T>A	ENST00000356790.2	+	3	609	c.364T>A	c.(364-366)Ttg>Atg	p.L122M		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	122	MAGE.							p.L122M(2)|p.L122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTGCATTACTTGCTGTACAA	0.428000													25	7					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													41	93					4.00472e-15	4.53647e-15	1	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151152230	151152230	+	Silent	SNP	T	T	C	rs143818607	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:151152230T>C	ENST00000367328.1	+	16	2295	c.1983T>C	c.(1981-1983)taT>taC	p.Y661Y	PLEKHG1_ENST00000358517.2_Silent_p.Y661Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	661					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y661Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACCATGTCTATGATAACATCA	0.473000													4	78					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62630480	62630480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:62630480G>C	ENST00000535781.1	+	7	965	c.854G>C	c.(853-855)gGa>gCa	p.G285A	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	285					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.G285A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCGACACACGGAGGAGACATC	0.502000													16	73					0	0	1	0	0
CDIP1	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:4563767C>A	ENST00000399599.3	-	3	719	c.171G>T	c.(169-171)ccG>ccT	p.P57P	CDIP1_ENST00000564828.1_Silent_p.P22P|CDIP1_ENST00000567695.1_Silent_p.P57P|CDIP1_ENST00000563507.1_Silent_p.P57P|CDIP1_ENST00000563332.2_Silent_p.P57P|CDIP1_ENST00000562334.1_Intron					cell death-inducing p53 target 1									p.P57P(2)									TTGGGTGACCCGGCGGCTCAT	0.652000													11	35					5.50884e-06	5.82912e-06	1	1	0
WDR89	112840	broad.mit.edu	37	14	64065716	64065716	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:64065716G>C	ENST00000394942.2	-	2	1033	c.945C>G	c.(943-945)agC>agG	p.S315R	WDR89_ENST00000267522.3_Missense_Mutation_p.S315R|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	315								p.S315R(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTCCCTGAAGGCTAGTCACAT	0.438000													128	142					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969655	118969655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:118969655C>G	ENST00000334549.1	+	3	1000	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423000													79	132					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521630	182521630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:182521630G>T	ENST00000410087.3	-	1	204	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	CERKL_ENST00000409440.3_Missense_Mutation_p.S35Y|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000374970.2_Missense_Mutation_p.S35Y|CERKL_ENST00000339098.5_Missense_Mutation_p.S35Y|CERKL_ENST00000374969.2_Missense_Mutation_p.S35Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	35					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.S35Y(4)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGCTGCGGGGACGTTAACAG	0.711000													6	9					0.0381472	0.0384288	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													2	4					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773419	141773419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141773419G>T	ENST00000389484.3	-	13	3007	c.2036C>A	c.(2035-2037)gCc>gAc	p.A679D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCATCCAGGCCTTCTCAAT	0.408000										TSP Lung(27;0.18)			70	193					1.00246e-47	1.28485e-47	1	1	0
DAND5	199699	broad.mit.edu	37	19	13084333	13084333	+	Missense_Mutation	SNP	G	G	A	rs45513495	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:13084333G>A	ENST00000317060.2	+	2	634	c.455G>A	c.(454-456)cGc>cAc	p.R152H	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	152	CTCK.					extracellular region		p.R152H(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ATGCCTGCTCGCAAGCGTTGG	0.597000													4	58					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:190067177C>G	ENST00000367462.3	-	8	2503	c.2272G>C	c.(2272-2274)Gat>Cat	p.D758H	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D656H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		758						extracellular region		p.D758H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000													164	357					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234536951	234536951	+	Missense_Mutation	SNP	G	G	C	rs144896311	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:234536951G>C	ENST00000040877.1	-	25	4046	c.4047C>G	c.(4045-4047)caC>caG	p.H1349Q	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1349					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.H1349Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CCTTGAGTGGGTGAAATGTTG	0.358000													4	112					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561369	15561369	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:15561369T>C	ENST00000344577.2	-	2	506	c.481A>G	c.(481-483)Att>Gtt	p.I161V	LIPI_ENST00000536861.1_Missense_Mutation_p.I140V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	140					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I161V(2)		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)		AGATTTTTAATGTGCACACTC	0.328000													14	61					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68549134	68549134	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:68549134T>A	ENST00000229135.3	-	4	631	c.500A>T	c.(499-501)tAa>tTa	p.*167L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	0					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.*167L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GGACAACCATTACTGGGATGC	0.363000													4	14					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6059022	6059022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:6059022G>A	ENST00000261405.5	-	51	8437	c.8183C>T	c.(8182-8184)aCt>aTt	p.T2728I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2728	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.T2728I(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCCTGGCAGTGATGTCGTT	0.537000													12	105					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	947922	947922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:947922C>T	ENST00000217260.4	-	3	400	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RSPO4_ENST00000400634.2_Missense_Mutation_p.D102N	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	102					Wnt receptor signaling pathway	extracellular region	heparin binding	p.D102N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGCAGAAGTCCTGGCTGAAG	0.602000													33	94					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310219	25310219	+	RNA	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:25310219A>T	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							GGAAAAGCTGAACAAAATGAG	0.473000													16	40					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967041	41967041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:41967041G>T	ENST00000298919.7	+	10	2068	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E562D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E820D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	820							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.E820D(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGATCAAGAGAAGGCAGTCA	0.488000													91	128					2.43828e-56	3.50078e-56	1	1	0
SULF1	23213	broad.mit.edu	37	8	70539460	70539460	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:70539460C>A	ENST00000260128.4	+	16	2583	c.1866C>A	c.(1864-1866)ccC>ccA	p.P622P	SULF1_ENST00000458141.2_Silent_p.P622P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.P622P|SULF1_ENST00000402687.4_Silent_p.P622P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.P622P(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATTCTTCCCAATGACTCTA	0.378000													14	45					4.3838e-07	4.83535e-07	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151259952	151259952	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:151259952G>A	ENST00000368879.2	+	2	1283	c.1185G>A	c.(1183-1185)agG>agA	p.R395R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.R395R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGTACAAGGCTGAAAGGCA	0.597000													29	78					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953319	30953319	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:30953319G>T	ENST00000597505.1	-	20	2895	c.2897_splice	c.e20+1	p.Q966_splice	DCDC1_ENST00000339794.5_Splice_Site_p.Q45_splice|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	201					intracellular signal transduction			p.Q45K(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTTCTTACTGCGTTTTCCGT	0.363000													4	1					0.00909568	0.00916702	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51868922	51868922	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:51868922T>A	ENST00000453097.2	+	16	2321	c.2104T>A	c.(2104-2106)Ttt>Att	p.F702I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.F729I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.F649I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.F649I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	702					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F702I(4)|p.F649I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTATTCTCTTTTTCACCAC	0.483000													14	82					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651126	1651126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:1651126C>A	ENST00000399676.2	+	1	94	c.56C>A	c.(55-57)tCc>tAc	p.S19Y		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	19						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggccgtggctccggctgtggg	0.692000													11	120					1.03073e-24	1.3942e-24	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	61					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966252	2966252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:2966252G>A	ENST00000575751.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217F(4)|p.S217Y(2)		kidney(1)|lung(10)	11						ACGTACATAGGATGTGGTCAT	0.507000													12	13					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135100	11135100	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:11135100G>C	ENST00000358026.2	+	21	3351	c.3067G>C	c.(3067-3069)Gag>Cag	p.E1023Q	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1023Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1023Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1023					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1023Q(4)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATGGCTCCGAGAAGGACAA	0.632000			"""F, N, Mis"""		NSCLC								22	20					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642213	111642213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:111642213C>A	ENST00000502935.1	-	10	1137	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A226S|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A340S|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A297S			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.A297S(2)|p.A340S(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGCTCACAGCATAGCTGGCC	0.577000													29	155					9.78306e-22	1.296e-21	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53682886	53682886	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:53682886T>C	ENST00000262135.4	-	16	2387	c.2294A>G	c.(2293-2295)cAt>cGt	p.H765R	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H765R|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H765R	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	765					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.H765R(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGACTGCATATGCTCTGGCCC	0.353000													35	51					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949602	17949602	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:17949602A>T	ENST00000361221.3	+	12	1291	c.1132A>T	c.(1132-1134)Atc>Ttc	p.I378F	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I339F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I156F|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I136F|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I378F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I156F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	378	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.I378F(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CATGTTCCAGATCGCCCTGTC	0.622000													40	54					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459557	105459557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:105459557C>A	ENST00000351513.2	-	3	730	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	200					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.A200S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCTCTGCAATTAAGTCT	0.453000													10	30					0.000442599	0.000458661	1	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259805	90259805	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:90259805G>T	ENST00000471857.1	+	0	213																											CAGCTCCTGGGGCTCCTGCTG	0.542000													35	220					1.49673e-21	1.97262e-21	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	53					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11827847	11827847	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:11827847T>C	ENST00000356957.3	-	3	667	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.Y187C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	187	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.Y187C(2)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCCGATGATACAGATATAT	0.333000													13	17					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636980	248636980	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248636980T>G	ENST00000359594.2	+	1	354	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110R(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTTCTACCTGACCCTGGCT	0.542000													56	112					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495340	64495340	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:64495340T>C	ENST00000303052.7	-	10	1471	c.1048A>G	c.(1048-1050)Act>Gct	p.T350A	CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T332A|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T350A|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T350A	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	350					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T350A(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTTCTCGAGTTATTGCAGAT	0.453000													41	15					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113521	59113521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:59113521C>A	ENST00000395153.3	+	4	2216	c.2069C>A	c.(2068-2070)tCg>tAg	p.S690*	DACT1_ENST00000335867.4_Nonsense_Mutation_p.S727*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.S446*|DACT1_ENST00000556859.1_Nonsense_Mutation_p.S446*|DACT1_ENST00000395151.3_Nonsense_Mutation_p.S446*	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	727					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S727*(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCGAGTACTCGGCCGAGTGC	0.662000													51	46					3.31993e-32	4.58721e-32	1	1	0
RYR2	6262	broad.mit.edu	37	1	237880668	237880668	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:237880668G>A	ENST00000366574.2	+	72	10811	c.10494_splice	c.e72+1	p.L3498_splice	RYR2_ENST00000360064.6_Splice_Site_p.L3496_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3482_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3498					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L3496L(2)		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)			GATTTAGCCTGGTAAGTCTCC	0.478000													6	19					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404945	128404945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:128404945G>C	ENST00000368227.3	-	9	1856	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	PTPRK_ENST00000368215.3_Missense_Mutation_p.S497C|PTPRK_ENST00000532331.1_Missense_Mutation_p.S497C|PTPRK_ENST00000368213.5_Missense_Mutation_p.S497C|PTPRK_ENST00000368226.4_Missense_Mutation_p.S497C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.S497C|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S497C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	497	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S497C(2)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCTTGAAGAGATTTTACTGG	0.338000													4	18					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799788	41799788	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:41799788G>A	ENST00000263800.6	-	10	1413	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	LTK_ENST00000453182.2_Silent_p.L378L|LTK_ENST00000355166.5_Silent_p.L378L|LTK_ENST00000561619.1_Silent_p.L121L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	439					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L439L(2)|p.L378L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACACCATAAGGAGGCTCAGTG	0.577000										TSP Lung(18;0.14)			23	12					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953812	161953812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:161953812G>T	ENST00000294794.3	-	8	2329	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.L637M|OLFML2B_ENST00000367938.1_Missense_Mutation_p.L119M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	636	Olfactomedin-like.							p.L636M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATCGTCCAGGGCCGGGTAG	0.632000													24	64					4.87955e-14	6.02906e-14	1	1	0
ZNF438	220929	broad.mit.edu	37	10	31137569	31137569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:31137569C>T	ENST00000538351.1	-	7	2372	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	ZNF438_ENST00000413025.1_Missense_Mutation_p.V589M|ZNF438_ENST00000452305.1_Missense_Mutation_p.V579M|ZNF438_ENST00000442986.1_Missense_Mutation_p.V589M|ZNF438_ENST00000375311.1_Missense_Mutation_p.V153M|ZNF438_ENST00000361310.3_Missense_Mutation_p.V589M|ZNF438_ENST00000436087.2_Missense_Mutation_p.V589M|ZNF438_ENST00000331737.6_Missense_Mutation_p.V579M|ZNF438_ENST00000444692.2_Missense_Mutation_p.V579M	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V589M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ACCCTATGCACTTCTTTCAGA	0.488000													87	63					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:57829576C>T	ENST00000371030.2	+	5	4812	c.4812C>T	c.(4810-4812)ccC>ccT	p.P1604P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604						intracellular	nucleic acid binding|zinc ion binding	p.P1604P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACTGTCCCCTGCCCCTCTT	0.493000													24	139					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592000													4	106					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	C	rs147799875		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:190067891G>C	ENST00000367462.3	-	8	1789	c.1558C>G	c.(1558-1560)Cgc>Ggc	p.R520G	FAM5C_ENST00000534846.1_Missense_Mutation_p.R418G|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		520						extracellular region		p.R520G(2)|p.R520S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTATTGAGGCGCATGTCATTG	0.453000													60	94					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113254006	113254006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:113254006T>A	ENST00000297405.5	-	66	10655	c.10411A>T	c.(10411-10413)Aaa>Taa	p.K3471*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K3401*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K3431*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K3302*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3471						integral to membrane|plasma membrane		p.K3471*(2)|p.K3431*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAATATTTTAGAACCAGCT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	30					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96330222	96330222	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:96330222G>C	ENST00000324765.8	+	19	2556	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	DIAPH2_ENST00000355827.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E737Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E733Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	737	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.E737Q(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTTATTCTGGAGGTTAATGA	0.313000													13	5					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763566	77763566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:77763566G>T	ENST00000521891.2	+	10	4857	c.4409G>T	c.(4408-4410)tGg>tTg	p.W1470L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1444L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1425L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1425L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1470L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAACTGTGGGCAGAGAGC	0.502000										HNSCC(33;0.089)			12	35					2.27111e-07	2.51584e-07	1	1	0
RGS6	9628	broad.mit.edu	37	14	72945023	72945023	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:72945023C>G	ENST00000553530.1	+	12	1047	c.840C>G	c.(838-840)tcC>tcG	p.S280S	RGS6_ENST00000343854.6_Silent_p.S280S|RGS6_ENST00000434263.2_Silent_p.S211S|RGS6_ENST00000407322.4_Silent_p.S280S|RGS6_ENST00000556437.1_Silent_p.S280S|RGS6_ENST00000402788.2_Silent_p.S280S|RGS6_ENST00000553525.1_Silent_p.S280S|RGS6_ENST00000554782.1_Silent_p.S141S|RGS6_ENST00000406236.4_Silent_p.S280S|RGS6_ENST00000404301.2_Silent_p.S280S|RGS6_ENST00000555571.1_Silent_p.S280S|RGS6_ENST00000355512.6_Silent_p.S280S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	280	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.S280S(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGAAAATGTCCAAAGTGGCTG	0.318000													3	12					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15569349	15569349	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:15569349A>G	ENST00000424120.1	+	26	3592	c.3338A>G	c.(3337-3339)cAt>cGt	p.H1113R	CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1113R|CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1064R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1113R			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1113	C2.				cell projection organization	cilium|microtubule basal body		p.H1113R(2)|p.H1064R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACAGTTTGCCATACGACTACG	0.363000													6	15					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1																						TGTGGGGCTCCGGACTGGTAA	0.692000													6	20					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603806	10603806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:10603806G>T	ENST00000334534.5	+	8	1186	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.A336S(2)									GGTTTTGCCAGCTTCAGAGTT	0.443000													37	62					6.90743e-12	8.03262e-12	1	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169943	20169943	+	RNA	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:20169943G>T	ENST00000338912.5	-	0	328																		p.T110K(2)									ATACATGGCCGTGTCCTCAGA	0.517000													29	241					2.85442e-18	3.66792e-18	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112482	248112482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248112482G>T	ENST00000357191.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCATTAGGAGGTGCAGAAGCA	0.438000													19	212					8.00594e-06	8.68155e-06	1	1	0
KRT79	338785	broad.mit.edu	37	12	53223860	53223860	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:53223860T>C	ENST00000330553.5	-	4	836	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	268	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.K268E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGCCCACTTTGCCATGCAGA	0.552000													18	88					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:159163801G>C	ENST00000368125.4	+	5	819	c.662G>C	c.(661-663)aGa>aCa	p.R221T	CADM3_ENST00000368124.4_Missense_Mutation_p.R255T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000													18	34					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499310	65499310	+	Silent	SNP	G	G	A	rs146845325		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:65499310G>A	ENST00000261883.4	-	4	400	c.234C>T	c.(232-234)cgC>cgT	p.R78R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R78R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATAGTAGAAGCGAATGGCGT	0.602000													5	38					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90168849	90168849	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:90168849T>A	ENST00000268138.7	+	20	5413	c.5308T>A	c.(5308-5310)Ttg>Atg	p.L1770M	TICRR_ENST00000560985.1_Missense_Mutation_p.L1769M|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator									p.L1770M(2)									ACAGTTTGGGTTGAGTTCCAG	0.537000													35	76					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019010	193019010	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:193019010A>T	ENST00000342358.4	-	24	2882	c.2765T>A	c.(2764-2766)cTg>cAg	p.L922Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	922					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L922Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAATAGAGCAGTAATGCACT	0.353000													44	45					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195622	17195622	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:17195622T>C	ENST00000377799.3	-	10	1006	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.Y239C|TRDMT1_ENST00000488990.1_Missense_Mutation_p.Y197C|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.Y274C|TRDMT1_ENST00000412821.3_Missense_Mutation_p.Y296C	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	320					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.Y320C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAGGGATTTGTAGATATTCTC	0.338000													7	10					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46345933	46345933	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:46345933C>A	ENST00000339464.4	-	2	539	c.165G>T	c.(163-165)cgG>cgT	p.R55R	WNT7B_ENST00000410089.1_Silent_p.R39R|WNT7B_ENST00000410058.1_Silent_p.R55R|WNT7B_ENST00000409496.3_Silent_p.R59R	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	55					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.R55R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCATCGGGCCGACTCTGGC	0.627000													15	46					1.37285e-15	1.70446e-15	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85991733	85991733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:85991733G>A	ENST00000372105.3	-	4	1843	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	608						integral to endoplasmic reticulum membrane		p.Q608*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCAAAGGCCTGAAAGTCCACA	0.572000													9	40					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849412	29849412	+	Splice_Site	SNP	C	C	T	rs140513474		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:29849412C>T	ENST00000325874.8	+	7	1157	c.929_splice	c.e7+1	p.R310_splice	RAB11FIP4_ENST00000394744.2_Splice_Site_p.R208_splice	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	310	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGCCTTTGGACGGTAAGGCCC	0.607000													5	142					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	97					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956665	16956665	+	RNA	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:16956665C>A	ENST00000412962.1	-	0	294																											CAGAGTCTAGCGGGGGTCCTT	0.637000													3	50					6.4e-05	6.76872e-05	1	1	0
GEM	2669	broad.mit.edu	37	8	95265333	95265333	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:95265333T>C	ENST00000297596.2	-	3	603	c.339A>G	c.(337-339)acA>acG	p.T113T	GEM_ENST00000396194.2_Silent_p.T113T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	113					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.T113T(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTCGTTCATATGTATCTTCTA	0.403000													26	68					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597207	18597207	+	RNA	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:18597207C>G	ENST00000546162.2	+	0	947					NR_003569.1																						CTCAGAAGAACTTGTTTCCCG	0.557000													14	141					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55721652C>A	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G957*(4)|p.G962*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			10	15					2.17888e-05	2.32353e-05	1	1	0
SEC23B	10483	broad.mit.edu	37	20	18523047	18523047	+	Splice_Site	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:18523047G>A	ENST00000336714.3	+	13	1943		c.e13+1		SEC23B_ENST00000262544.2_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site|SEC23B_ENST00000377475.3_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCGCCCGAAAGTAAGCAGCCC	0.488000													100	168					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322802	150322802	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:150322802T>C	ENST00000533735.1	-	0	74					NR_024045.1																						AGACAGTGTGTGTCTGTGGAA	0.493000													6	48					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:154516513G>T	ENST00000368482.4	+	9	1416	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R193L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	193							nucleotide binding|RNA binding	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617000													80	125					1.47272e-24	1.98161e-24	1	1	0
LUC7L	55692	broad.mit.edu	37	16	242974	242974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:242974C>T	ENST00000337351.4	-	7	851	c.728G>A	c.(727-729)cGc>cAc	p.R243H	LUC7L_ENST00000397783.1_Missense_Mutation_p.R243H|LUC7L_ENST00000293872.8_Missense_Mutation_p.R243H|LUC7L_ENST00000397780.1_Missense_Mutation_p.R190H	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	243	Arg/Ser-rich.						metal ion binding	p.R243H(4)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCTCAAGCGATCCTGATT	0.507000													79	173					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107649	35107649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:35107649C>A	ENST00000378561.1	-	2	3678	c.623G>T	c.(622-624)gGg>gTg	p.G208V	FAM214B_ENST00000378557.1_Missense_Mutation_p.G208V|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208V|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208V|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208V|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208V|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208V			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									GAGGCTACCCCCATTGCCCAC	0.657000													19	32					2.37509e-13	2.90666e-13	1	1	0
IGHE	3497	broad.mit.edu	37	14	106066375	106066375	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:106066375C>T	ENST00000412518.1	-	0	1				IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA																							CTGGATGGAGCCCTGGGAGGG	0.602000													10	279					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631306	32631306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:32631306G>T	ENST00000242310.4	-	1	4361	c.4272C>A	c.(4270-4272)ttC>ttA	p.F1424L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1424	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.F1424L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGGAGTGTGGAAAGGGTGTG	0.473000													81	50					3.9908e-21	5.23283e-21	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699878	136699878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:136699878G>C	ENST00000445907.2	+	3	794	c.266G>C	c.(265-267)tGg>tCg	p.W89S	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.W89S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.W89S|CHRM2_ENST00000401861.1_Missense_Mutation_p.W89S|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.W89S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	89					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.W89S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGGTTACTGGCCTTTGGGA	0.463000													38	72					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574915	82574915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:82574915G>T	ENST00000339465.5	+	3	778	c.709G>T	c.(709-711)Gag>Tag	p.E237*	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Nonsense_Mutation_p.E222*	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	237								p.E237*(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAAGTACCAGAGTATGTGCC	0.473000													7	55					2.0095e-06	2.18831e-06	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													4	97					0.00024832	0.000259424	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115965313	115965313	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:115965313A>G	ENST00000238256.3	-	5	444	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	109	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding	p.Y134Y(2)|p.Y109Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAGAATCCTATACTGTAGAC	0.328000													5	3					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140070879	140070879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:140070879C>A	ENST00000504156.1	-	1	730	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HARS_ENST00000431330.2_Missense_Mutation_p.R4L|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Missense_Mutation_p.R4L|HARS_ENST00000438307.2_Missense_Mutation_p.R4L|HARS_ENST00000457527.2_Missense_Mutation_p.R4L|HARS_ENST00000307633.3_Missense_Mutation_p.R4L	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	4	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.R4L(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCGCCGCACGCTCTGCCAT	0.652000													16	7					4.14922e-12	4.86917e-12	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42244272	42244272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:42244272C>A	ENST00000449246.1	+	12	1851	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGCCCCTCTCTGTCCTCCTG	0.647000													17	24					1.15088e-07	1.28041e-07	1	1	0
ACTN2	88	broad.mit.edu	37	1	236925779	236925779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:236925779G>A	ENST00000366578.4	+	21	2711	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E849K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E343K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	849					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.E849K(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGCGGAGGAGCTGCGTCG	0.537000													23	56					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038767	11038767	+	RNA	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:11038767A>C	ENST00000470054.1	-	0	1436									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTCTCTTAGTAATAGCTG	0.378000													9	60					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633039	11633039	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:11633039G>T	ENST00000423059.3	-	3	1364	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	371	TSP type-1 3.					integral to membrane		p.P371P(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTTGAGCAGGGGCTCCACT	0.517000										HNSCC(18;0.044)			23	55					0.000229342	0.000240575	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:50659489G>T	ENST00000252677.3	+	2	1061	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R354L(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGTGTCCCCCGGCCCTCCTGT	0.463000													32	11					9.65021e-13	1.15893e-12	1	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26204930	26204930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:26204930C>A	ENST00000360441.4	+	1	73	c.58C>A	c.(58-60)Cgt>Agt	p.R20S		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R20S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TAAGCGTCACCGTAAGGTCCT	0.547000													26	110					7.88262e-20	1.02315e-19	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130292827	130292827	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:130292827T>A	ENST00000358511.6	+	7	3036	c.3005T>A	c.(3004-3006)gTt>gAt	p.V1002D	COL6A6_ENST00000453409.2_Missense_Mutation_p.V1002D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1002	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.V1002D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGATCTTGTTTTCCTTATG	0.358000													18	18					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006275	44006275	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:44006275T>A	ENST00000292140.5	-	3	734	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	PHLDB3_ENST00000599242.1_Missense_Mutation_p.Q125L	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	125								p.Q125L(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCTTCCTCTGGCGCTGTAG	0.652000													3	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600341	179600341	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:179600341T>A	ENST00000589042.1	-	50	15056	c.14832A>T	c.(14830-14832)acA>acT	p.T4944T	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3700T|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T4627T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4627	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T3700T(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCAAGTGTTGCTATTT	0.433000													12	20					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149140	73149140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:73149140C>T	ENST00000286657.4	-	22	3367	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.G1111S(2)		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)			GCATTTGGACCTCCCACTGAA	0.463000													15	99					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20968951	20968951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:20968951C>A	ENST00000298925.5	+	12	1378	c.1225C>A	c.(1225-1227)Cct>Act	p.P409T	NELL1_ENST00000357134.5_Missense_Mutation_p.P381T|NELL1_ENST00000325319.5_Missense_Mutation_p.P324T|NELL1_ENST00000532434.1_Missense_Mutation_p.P381T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	381	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.P381T(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCACATTCTTCCTGAGAATCA	0.473000													40	18					1.41851e-31	1.94951e-31	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103287	65103287	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:65103287C>T	ENST00000358691.5	-	31	5405	c.5239G>A	c.(5239-5241)Gag>Aag	p.E1747K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1748K	NM_014877.3	NP_055692.2			helicase with zinc finger									p.E1747K(2)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACATTTACCTCTTCTAAGCTA	0.328000													42	46					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23810997	23810997	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:23810997C>T	ENST00000314520.3	+	1	544	c.68C>T	c.(67-69)gCa>gTa	p.A23V	MKRN3_ENST00000568252.1_Missense_Mutation_p.A23V|MKRN3_ENST00000564592.1_Missense_Mutation_p.A23V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	23						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A23V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTGAGGCAGCAAGGGAGGGT	0.667000													38	33					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599727	3599727	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:3599727A>T	ENST00000302006.3	+	2	717	c.665A>T	c.(664-666)gAg>gTg	p.E222V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E222V(2)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACGACGAGGAGATCGACCTG	0.632000													7	60					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459353	92459353	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:92459353A>C	ENST00000318445.6	+	2	525	c.311A>C	c.(310-312)cAc>cCc	p.H104P	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.H104P	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	104					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCACGCGGGCACCGGCCGCGC	0.667000													7	21					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874285	155874285	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:155874285A>C	ENST00000368323.3	-	5	450	c.246T>G	c.(244-246)ttT>ttG	p.F82L	RIT1_ENST00000539040.1_Missense_Mutation_p.F46L|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.F99L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	82					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.F82L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGCTGTAAACTCTGCCT	0.423000													17	24					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267478	71267478	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:71267478C>A	ENST00000554752.2	-	2	725	c.726G>T	c.(724-726)ctG>ctT	p.L242L	MAP3K9_ENST00000555993.2_Silent_p.L242L|MAP3K9_ENST00000381250.4_Silent_p.L242L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	242	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.L242L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCAATTCACCAGGATGTCTG	0.493000													26	76					4.26978e-12	4.98788e-12	1	1	0
CDH9	1007	broad.mit.edu	37	5	26915812	26915812	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:26915812T>C	ENST00000231021.4	-	3	621	c.449A>G	c.(448-450)cAt>cGt	p.H150R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	150	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H150R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGATATCATGTATTTTAAT	0.388000													27	39					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27510036	27510036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:27510036G>C	ENST00000356183.4	-	13	2095	c.2080C>G	c.(2080-2082)Ccg>Gcg	p.P694A	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P694A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694						transcription factor TFIIIC complex	DNA binding|protein binding	p.P694A(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCCATGGACGGGTGCACCACC	0.577000													55	120					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178412214	178412214	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:178412214G>T	ENST00000448150.3	+	8	2096	c.1278G>T	c.(1276-1278)ctG>ctT	p.L426L	RASAL2_ENST00000367649.3_Silent_p.L444L|RASAL2_ENST00000462775.1_Silent_p.L296L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	296	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L426L(2)|p.L296L(2)|p.L444L(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCACCATTCTGCCTATGGAGC	0.413000													10	29					4.68919e-08	5.26254e-08	1	1	0
XIST	7503	broad.mit.edu	37	X	73063798	73063798	+	RNA	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:73063798T>C	ENST00000429829.1	-	0	8790					NR_001564.2																						GAAGGGGCCTTGGAGGGAAAC	0.388000													13	4					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122782798	122782798	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:122782798T>A	ENST00000264499.4	-	4	385	c.202A>T	c.(202-204)Agg>Tgg	p.R68W	BBS7_ENST00000506636.1_Missense_Mutation_p.R68W	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	68					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R68W(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCCAGCCTTGCAATCTTC	0.398000									Bardet-Biedl syndrome				9	7					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275347	71275347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:71275347G>T	ENST00000399575.2	+	3	476	c.302G>T	c.(301-303)gGt>gTt	p.G101V	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCTTTCCGGGTTATCCAAAC	0.403000													76	116					1.31311e-47	1.86447e-47	1	1	0
PCNX	22990	broad.mit.edu	37	14	71444881	71444881	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:71444881T>C	ENST00000304743.2	+	6	2273	c.1827T>C	c.(1825-1827)agT>agC	p.S609S	PCNX_ENST00000439984.3_Silent_p.S609S|PCNX_ENST00000238570.5_Silent_p.S609S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	609	Ser-rich.					integral to membrane		p.S609S(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGACTTGAGTAGAGCATCAA	0.473000													38	36					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289671	18289671	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:18289671T>C	ENST00000377369.2	+	11	1949	c.1676T>C	c.(1675-1677)aTa>aCa	p.I559T	SLC39A12_ENST00000377374.4_Missense_Mutation_p.I522T|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I558T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.I425T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	559					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.I522T(2)		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						GGCCTAGCCATAGGAGCAGCC	0.438000													24	38					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600241	29600241	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:29600241T>C	ENST00000431530.3	+	1	1494	c.1436T>C	c.(1435-1437)gTt>gCt	p.V479A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	469						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.V479A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGTTATGGTTTTGGTGTTC	0.507000													26	18					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456009	65456009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:65456009G>T	ENST00000330909.8	-	5	907	c.908C>A	c.(907-909)cCt>cAt	p.P303H	MAGI1_ENST00000402939.2_Missense_Mutation_p.P303H|MAGI1_ENST00000497477.2_Missense_Mutation_p.P303H|MAGI1_ENST00000483466.1_Missense_Mutation_p.P303H|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	303	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P303H(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCAGTTTTCAGGTAGAGGACC	0.413000													18	9					1.64113e-05	1.75738e-05	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862789	10862789	+	RNA	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:10862789G>C	ENST00000559480.1	+	0	85																		p.E29*(1)|p.E29Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCTGGGGCTGAGGTGAAGAA	0.562000													25	295					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814179	60814179	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:60814179A>C	ENST00000544856.2	-	7	1425	c.1047T>G	c.(1045-1047)agT>agG	p.S349R	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S350R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S350R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S388R|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	350							ligase activity|zinc ion binding	p.S350R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGAGCCATGACTGGGCTCAC	0.483000													53	155					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609691	158609691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:158609691C>A	ENST00000368148.3	-	34	5024	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1615I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1615					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1615I(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCCGGATGCTTGTGTTGAA	0.448000													40	68					4.00102e-26	5.46948e-26	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178310735	178310735	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:178310735A>G	ENST00000462775.1	+	1	130	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	RASAL2_ENST00000367649.3_Intron|RASAL2_ENST00000448150.3_Intron	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	2					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.Q2R(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CACACGATGCAGACCCCAGGT	0.428000													5	21					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75881899	75881899	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:75881899C>T	ENST00000393909.2	+	5	538	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MRPL19_ENST00000409374.1_Silent_p.V171V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	171					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.V171V(2)		kidney(1)|large_intestine(1)|lung(6)	8						ATCCTCGGGTCCAGGAGATTC	0.378000													7	41					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755587	77755587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:77755587G>A	ENST00000310942.4	+	4	379	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CBX2_ENST00000269399.5_Missense_Mutation_p.R92H	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	92	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.R92H(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCAGCCGGCGCTCCAAGCTC	0.657000													26	72					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779384	229779384	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:229779384A>T	ENST00000258243.2	+	5	3875	c.3739A>T	c.(3739-3741)Atg>Ttg	p.M1247L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1247						nucleolus		p.M1247L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGGCTGGTGATGCAGTGTAT	0.512000													48	101					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752748	49752748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:49752748C>A	ENST00000492622.2	+	14	1880	c.1575C>A	c.(1573-1575)taC>taA	p.Y525*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Y469*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Y525*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	525	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.Y525*(2)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATCTTGCTTACACAGTGAAAA	0.343000													17	15					1.02788e-11	1.1846e-11	1	1	0
MYLK	4638	broad.mit.edu	37	3	123375980	123375980	+	Silent	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:123375980T>C	ENST00000360772.3	-	25	4659	c.4281A>G	c.(4279-4281)aaA>aaG	p.K1427K	MYLK_ENST00000354792.5_Silent_p.K227K|MYLK_ENST00000346322.5_Silent_p.K1358K|MYLK_ENST00000475616.1_Silent_p.K1427K|MYLK_ENST00000360304.3_Silent_p.K1427K|MYLK_ENST00000359169.1_Silent_p.K1427K			Q15746	MYLK_HUMAN	myosin light chain kinase	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K1427K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCTTCAGGTTTCTCTCCTA	0.478000													39	44					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032335	10032335	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:10032335T>C	ENST00000396573.2	-	4	797	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAATCCTGCATGATCTT	0.498000													47	88					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92526040	92526040	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:92526040G>A	ENST00000298047.6	+	8	4736	c.4719G>A	c.(4717-4719)gcG>gcA	p.A1573A	FAT3_ENST00000525166.1_Silent_p.A1423A|FAT3_ENST00000409404.2_Silent_p.A1573A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1573A(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATGAAGCGTCTGTGTTTG	0.438000										TCGA Ovarian(4;0.039)			16	105					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773418	141773418	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141773418G>T	ENST00000389484.3	-	13	3008	c.2037C>A	c.(2035-2037)gcC>gcA	p.A679A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATCCAGGCCTTCTCAA	0.413000										TSP Lung(27;0.18)			24	49					1.17739e-12	1.40088e-12	1	1	0
HEATR3	55027	broad.mit.edu	37	16	50134194	50134194	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:50134194T>G	ENST00000299192.7	+	13	1844	c.1653T>G	c.(1651-1653)agT>agG	p.S551R	HEATR3_ENST00000285767.4_Missense_Mutation_p.S465R	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	551							binding	p.S551R(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCATAGTAGTAATGTCGGGG	0.378000													20	40					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729639	15729639	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:15729639C>T	ENST00000396368.3	-	3	911	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIAA0430_ENST00000548025.1_Silent_p.G235G|KIAA0430_ENST00000344181.3_Silent_p.G57G|KIAA0430_ENST00000540441.2_Silent_p.G235G|KIAA0430_ENST00000551742.1_Silent_p.G235G|KIAA0430_ENST00000602337.1_Silent_p.G235G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	234						peroxisome	nucleotide binding|RNA binding	p.G235G(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTCCAAATGCCCTGGAGCCC	0.522000													28	45					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125912853	125912853	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:125912853T>A	ENST00000409134.3	-	6	787	c.568A>T	c.(568-570)Atc>Ttc	p.I190F	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I217F|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I190F|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	190					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.I162F(2)|p.I217F(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GCCGTGATGATTCCAACCAGG	0.483000													24	16					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825245	43825245	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:43825245T>G	ENST00000389420.3	-	22	3150	c.3151A>C	c.(3151-3153)Aat>Cat	p.N1051H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1051H|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N205H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1051	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding	p.N1051H(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGATCTACATTCAGCTGACAC	0.413000													17	54					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106632981	106632981	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:106632981T>C	ENST00000378026.4	-	2	1766	c.1630A>G	c.(1630-1632)Agc>Ggc	p.S544G		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	544						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S544G(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCACTTGGCTGACTGAGGCT	0.532000													54	76					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032336	10032336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:10032336G>T	ENST00000396573.2	-	4	796	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q163K|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q163K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q163K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q6K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	163					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q163R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAATCCTGCATGATCTTC	0.498000													46	86					9.82405e-12	1.13729e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			31	15					7.68411e-24	1.02855e-23	1	1	0
AKT3	10000	broad.mit.edu	37	1	243809209	243809209	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:243809209G>A	ENST00000366539.1	-	5	615	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	AKT3_ENST00000336199.5_Missense_Mutation_p.H139Y|AKT3_ENST00000366540.1_Missense_Mutation_p.H139Y|AKT3_ENST00000263826.5_Missense_Mutation_p.H139Y			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	139					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.H139Y(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTTTTATGATGGGTTGTAGAG	0.378000													12	26					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910104	910104	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:910104C>A	ENST00000316157.3	-	3	288	c.248G>T	c.(247-249)tGg>tTg	p.W83L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CACCTCCTCCCATGCAGCACT	0.592000													27	14					1.08312e-15	1.35127e-15	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588136	204588136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:204588136G>A	ENST00000367175.1	-	1	3197	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	LRRN2_ENST00000367176.3_Missense_Mutation_p.R329C|LRRN2_ENST00000367177.3_Missense_Mutation_p.R329C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion	integral to membrane	receptor activity	p.R329C(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGAAGGCGCGGGGGTGGATG	0.607000													18	76					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93089858	93089858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:93089858C>A	ENST00000370331.1	-	14	1663	c.1654G>T	c.(1654-1656)Gac>Tac	p.D552Y	EVI5_ENST00000540033.1_Missense_Mutation_p.D552Y|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.D563Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	552	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.D552Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTGGGTGGGTCTTTCCATCTC	0.353000													6	40					8.12818e-05	8.56124e-05	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30804833	30804833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:30804833A>G	ENST00000383096.3	-	17	1906	c.1724T>C	c.(1723-1725)aTa>aCa	p.I575T	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.I575T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I575T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I575T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I575T|CCDC178_ENST00000583930.1_Missense_Mutation_p.I575T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I575T					coiled-coil domain containing 178									p.I575T(4)									CATGGCACATATTGCTCTATT	0.378000													9	15					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955474	55955474	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55955474C>G	ENST00000373965.2	-	11	1668	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	PCDH15_ENST00000373957.3_Missense_Mutation_p.R403T|PCDH15_ENST00000395433.1_Missense_Mutation_p.R403T|PCDH15_ENST00000373955.1_Missense_Mutation_p.R425T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R430T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R425T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R29T|PCDH15_ENST00000395440.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R388T|PCDH15_ENST00000320301.6_Missense_Mutation_p.R425T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395446.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395438.1_Missense_Mutation_p.R425T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R425T|PCDH15_ENST00000395430.1_Missense_Mutation_p.R425T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R430T(4)|p.R425T(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTACTATTCTTAAAGGTGA	0.368000										HNSCC(58;0.16)			11	61					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186244912	186244912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:186244912A>T	ENST00000504273.1	+	9	1509	c.1215A>T	c.(1213-1215)gaA>gaT	p.E405D	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E405D			Q9H3E2	SNX25_HUMAN	sorting nexin 25	405					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E405D(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TAAAAGAGGAAGAAAAACATG	0.338000													5	12					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920368	113920368	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:113920368T>C	ENST00000348367.4	-	16	1950	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V	GPAM_ENST00000423155.1_Missense_Mutation_p.I585V|GPAM_ENST00000369425.1_Missense_Mutation_p.I585V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	585					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.I585V(2)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ATACCTATGATGGCCTCCATG	0.393000													19	45					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733434	152733434	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:152733434T>C	ENST00000368773.1	+	2	1428	c.1370T>C	c.(1369-1371)aTt>aCt	p.I457T	KPRP_ENST00000606109.1_Missense_Mutation_p.I457T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	457	Pro-rich.					cytoplasm		p.I457T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGTGAGATTCCAGAGCCA	0.622000													81	143					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255663	70255663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:70255663G>A	ENST00000342771.4	+	19	3782	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1130H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1154	His-rich.							p.R1154H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCGGGAGCGCTTGCACATG	0.692000													7	59					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55364093	55364093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:55364093C>A	ENST00000398661.2	-	7	768	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.V151L|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.V183L|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	213							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.V213L(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACAAGACACATACCTAAAT	0.323000													5	20					0.000602214	0.000619076	1	1	0
TRBV6-7	28600	broad.mit.edu	37	7	142143879	142143879	+	RNA	SNP	A	A	T	rs149184848	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:142143879A>T	ENST00000390373.2	-	0	116																											CACACAGCAGAGTCATGCTCT	0.507000													5	122					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188680	57188680	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:57188680A>G	ENST00000331162.4	-	5	712	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C148R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGACAAACATTGGTTAACT	0.308000													24	25					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66618624	66618624	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:66618624T>C	ENST00000393960.1	-	17	2391	c.2110A>G	c.(2110-2112)Atc>Gtc	p.I704V	PC_ENST00000393958.2_Missense_Mutation_p.I704V|PC_ENST00000393955.2_Missense_Mutation_p.I704V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	704	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.I704V(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGTATGAGATGGCAGCCTCC	0.612000													59	17					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349754	30349754	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:30349754G>T	ENST00000359358.4	-	2	1239	c.801C>A	c.(799-801)gcC>gcA	p.A267A	KLHL14_ENST00000358095.4_Silent_p.A267A	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	267	BACK.					cytosol|endoplasmic reticulum membrane		p.A267A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCGGGATGAGGGCGAAGCGGA	0.652000													20	39					4.35082e-09	4.90421e-09	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:226924682C>A	ENST00000429204.1	-	2	805	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	ITPKB_ENST00000366784.1_Missense_Mutation_p.A160S|ITPKB_ENST00000272117.3_Missense_Mutation_p.A160S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A160S(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652000													70	141					7.91278e-47	1.11735e-46	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118969656	118969656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:118969656C>T	ENST00000334549.1	+	3	1001	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTAGAACACCCTAACTTCTTC	0.418000													41	103					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544261	103544261	+	Silent	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:103544261G>T	ENST00000358392.2	-	3	758	c.441C>A	c.(439-441)gcC>gcA	p.A147A	COL11A1_ENST00000353414.4_Silent_p.A147A|COL11A1_ENST00000370096.3_Silent_p.A147A|COL11A1_ENST00000512756.1_Silent_p.A147A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	147	TSP N-terminal.				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	p.A147A(4)		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)		AGTCTTCTGGGGCAGGTTTTC	0.368000													7	10					1	1	1	1	0
CDT1	81620	broad.mit.edu	37	16	88871952	88871952	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:88871952G>T	ENST00000301019.4	+	4	1212	c.593G>T	c.(592-594)cGc>cTc	p.R198L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	198					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	p.R198L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGATGTTCCGCAGCATGGAC	0.662000													65	86					2.79145e-41	3.87785e-41	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35750491	35750491	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:35750491A>G	ENST00000187397.4	+	11	1282	c.826A>G	c.(826-828)Aga>Gga	p.R276G	ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	276						cytoplasm	nucleic acid binding	p.R276G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAGAGATGACAGACGAAGTAA	0.378000													3	10					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297637	10297637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:10297637C>A	ENST00000403437.2	-	35	5189	c.5095G>T	c.(5095-5097)Gag>Tag	p.E1699*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1699					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1699*(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTTCTCTCTGTCTGTTCC	0.587000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	34					8.43275e-48	1.20401e-47	1	1	0
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	G	A	rs145360326	byFrequency	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:141693948G>A	ENST00000344120.4	-	3	981	c.795C>T	c.(793-795)tcC>tcT	p.S265S	SPRY4_ENST00000434127.2_Silent_p.S242S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682000									Testicular Cancer, Familial Clustering of				8	24					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594557	70594557	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:70594557A>C	ENST00000260126.3	-	7	2350	c.1644T>G	c.(1642-1644)caT>caG	p.H548Q	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.H493Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.H548Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	548						integral to membrane|plasma membrane	transporter activity	p.H548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGATTCCTATGGGGCATGG	0.388000													24	90					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811966	129811966	+	RNA	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:129811966C>T	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TGACTCTTGACGGACAGAACC	0.413000													14	70					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212371	28212371	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:28212371G>T	ENST00000284984.2	-	6	2129	c.1675C>A	c.(1675-1677)Cat>Aat	p.H559N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	559	Disintegrin.|TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H559N(2)|p.H559Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAGCTTCCATGAAAAGGCGTC	0.463000													14	23					2.61681e-11	3.00233e-11	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407783	105407783	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:105407783C>T	ENST00000333244.5	-	7	14124	c.14005G>A	c.(14005-14007)Gaa>Aaa	p.E4669K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4669						nucleus		p.E4669K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAACAGATTCCACAATGGGA	0.413000													12	32					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980917	40980917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:40980917G>T	ENST00000373198.3	-	10	1804	c.1569C>A	c.(1567-1569)taC>taA	p.Y523*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y523*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y523*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	523	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y523*(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGACAGCCTTGTAGTTGATCT	0.532000													12	48					0.00244969	0.0024983	1	1	0
UBE2J1	51465	broad.mit.edu	37	6	90042806	90042806	+	Splice_Site	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:90042806G>T	ENST00000435041.2	-	7	955	c.678_splice	c.e7+1	p.S226_splice		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	226						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S226*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GAGCCATACCGATGTACTGGC	0.363000													3	68					0.150653	0.151242	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86898148	86898148	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:86898148C>T	ENST00000370565.4	+	5	843	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	227					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.T227T(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGGATGCACCTTTATCTACA	0.378000													31	37					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327504	57327504	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:57327504T>C	ENST00000326441.9	-	10	2669	c.2306A>G	c.(2305-2307)tAt>tGt	p.Y769C	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y645C|PEG3_ENST00000593695.1_Missense_Mutation_p.Y643C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y769C|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	769					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y769C(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGCCTCATAGACATTTTC	0.418000													105	43					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21385084	21385084	+	Missense_Mutation	SNP	A	A	T	rs150636116		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:21385084A>T	ENST00000380206.2	-	1	312	c.245T>A	c.(244-246)aTg>aAg	p.M82K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	82					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.M82K(2)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGCTGGATCATCTCATGGAG	0.483000													22	64					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768627	31768627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:31768627C>A	ENST00000355459.2	+	1	236	c.223C>A	c.(223-225)Ccc>Acc	p.P75T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament		p.P75T(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGTCCAGCCCCTGCCAGAC	0.612000													29	41					1.88708e-17	2.38907e-17	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17746954	17746954	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:17746954C>T	ENST00000428389.2	-	27	3357	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K	UNC13A_ENST00000252773.7_Missense_Mutation_p.E1032K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1032K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1032K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1030K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1032K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1032	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.E1032K(1)|p.E1120K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGAGAACTTCCCCCTTCTTG	0.498000													8	3					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530913	55530913	+	Silent	SNP	C	C	T	rs41521545	byFrequency	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:55530913C>T	ENST00000219070.4	+	10	2057	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	MMP2_ENST00000437642.2_Silent_p.L466L|MMP2_ENST00000543485.1_Silent_p.L440L|MMP2_ENST00000570308.1_Silent_p.L440L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	516	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.L516L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGCCTGAGCTCCCGGAAAAGA	0.612000													11	130					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142503717	142503717	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:142503717A>T	ENST00000273482.6	+	6	1421	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R378*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	378					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R344*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCAGTTTGGCAGAATCATTCA	0.368000													12	43					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488886	70488886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:70488886C>A	ENST00000310961.5	+	18	1942	c.1524C>A	c.(1522-1524)tgC>tgA	p.C508*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.C503*|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	503						centrosome|focal adhesion|nucleolus	protein binding	p.C503*(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGGCGATTGCTGCACACCAT	0.582000													21	55					5.26018e-13	6.34679e-13	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74477490	74477490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:74477490C>A	ENST00000394019.2	-	17	2030	c.1633G>T	c.(1633-1635)Gat>Tat	p.D545Y	SLC4A5_ENST00000377632.1_Missense_Mutation_p.D545Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D481Y|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D481Y|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D545Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D545Y|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D545Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	545						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.D545Y(4)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGGTGGCATCCCCCAGAAGC	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	50					6.00712e-18	7.64273e-18	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141819658	141819658	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141819658G>T	ENST00000389484.3	-	8	2169	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTTCCTTGATAGTCCACT	0.393000										TSP Lung(27;0.18)			16	39					0.000422831	0.00043995	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12761005	12761005	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:12761005A>C	ENST00000456935.2	-	17	2118	c.2078T>G	c.(2077-2079)tTc>tGc	p.F693C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.F692C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	693					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.F693C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAAGCTGAGAAGTTCTGGTG	0.612000													101	44					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166010962	166010962	+	Splice_Site	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:166010962C>T	ENST00000360093.3	-	11	1871	c.1380_splice	c.e11+1	p.Q460_splice	SCN3A_ENST00000409101.3_Splice_Site_p.Q460_splice|SCN3A_ENST00000283254.7_Splice_Site_p.Q460_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q460Q(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACTCAGTACCTGAGCTTCTT	0.368000													6	29					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142170817	142170817	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:142170817G>T	ENST00000519811.1	+	9	1353	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	DENND3_ENST00000262585.2_Missense_Mutation_p.R348L|DENND3_ENST00000424248.1_Intron			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	348								p.R348L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACCGGCGGTCCTGGCAG	0.617000													13	36					5.26018e-13	6.34679e-13	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26596529	26596529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:26596529C>T	ENST00000381340.3	-	46	6813	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2133					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.D2133N(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCCTTCATCTGGATCCGAT	0.403000													12	19					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96416742	96416742	+	Silent	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:96416742C>G	ENST00000359246.4	+	7	1204	c.837C>G	c.(835-837)tcC>tcG	p.S279S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	279	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.S279S(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAACATCTCCCTGTATGAGC	0.602000													27	18					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12506572	12506572	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:12506572C>A	ENST00000409402.4	-	6	1143	c.876G>T	c.(874-876)cgG>cgT	p.R292R	SPIRE1_ENST00000410092.3_Silent_p.R292R|SPIRE1_ENST00000453447.2_Silent_p.R172R|SPIRE1_ENST00000309836.5_Silent_p.R95R|SPIRE1_ENST00000383356.2_Silent_p.R133R	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	292						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.R292R(2)|p.R133R(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGTTGTACTGCCGCTCTTGGA	0.443000													22	65					2.32416e-17	2.92798e-17	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1																						GTTGAGCAGCGGCTGAAACCC	0.687000													4	15					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	94973152	94973152	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:94973152G>A	ENST00000375643.3	-	34	3992	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	IARS_ENST00000447699.2_Silent_p.P1132P|IARS_ENST00000443024.2_Silent_p.P1242P|IARS_ENST00000375629.3_3'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1242					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.P1242P(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGTCTTCACGGGGATGTCTT	0.353000													20	19					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37708205	37708205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:37708205G>T	ENST00000248901.6	+	12	1289	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	368	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E368*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGTGGATCGAGTCCATCCG	0.607000													23	58					2.4375e-19	3.14792e-19	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55587214	55587214	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:55587214G>A	ENST00000373965.2	-	33	4721	c.4327C>T	c.(4327-4329)Ccg>Tcg	p.P1443S	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1411S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1438S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1436S|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1047S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1396S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1436S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1443S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1436S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1365S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1433S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1436S(4)|p.P1438S(2)|p.P1441S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggcggcggcgggggcgCTGCC	0.587000										HNSCC(58;0.16)			7	15					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	5950	5950	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrM:5950G>A	ENST00000361624.2	+	1	47	c.47G>A	c.(46-48)gGa>gAa	p.16_16insE						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAAAGACATTGGAACACTATA	0.498000													22	168					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39991296	39991296	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr19:39991296A>T	ENST00000205143.4	+	3	400	c.393A>T	c.(391-393)ttA>ttT	p.L131F	DLL3_ENST00000356433.5_Missense_Mutation_p.L131F	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	131					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.L131F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAGGAGTTAGGAGACCAGA	0.517000													27	14					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18434300	18434300	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:18434300A>G	ENST00000541669.1	+	2	147	c.36A>G	c.(34-36)ctA>ctG	p.L12L	LDHC_ENST00000537486.1_Silent_p.L12L|LDHC_ENST00000544105.1_Silent_p.L12L|LDHC_ENST00000280704.4_Silent_p.L12L|LDHC_ENST00000535809.1_Silent_p.L12L|LDHC_ENST00000536880.1_Silent_p.L12L|LDHC_ENST00000546146.1_Silent_p.L12L			P07864	LDHC_HUMAN	lactate dehydrogenase C	12					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L12L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTGAGAAGCTAATTGAGGATG	0.393000													31	20					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97158873	97158873	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:97158873G>T	ENST00000524981.3	+	27	3511	c.3511G>T	c.(3511-3513)Gca>Tca	p.A1171S				Q6ZTY8	CL063_HUMAN		1145								p.A1145S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCTGTGCTGGCAATTAACTT	0.299000													23	29					1.10923e-09	1.25583e-09	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70853343	70853343	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:70853343A>G	ENST00000333538.5	+	3	1179	c.545A>G	c.(544-546)cAc>cGc	p.H182R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	182	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.H182R(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACGCCCACACACCTGCTGAAG	0.557000													36	48					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813655	106813655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:106813655C>G	ENST00000407775.2	+	8	1595	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L317V|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L317V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L180V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	449					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L449V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGCTCTTTCTCACGAACCA	0.463000													7	61					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169621556	169621556	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:169621556G>C	ENST00000366787.3	-	21	3589	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1114	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L1114V(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGTGAGTCAGGTGCCACCTA	0.547000													47	43					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48670747	48670747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:48670747G>A	ENST00000358747.6	-	2	446	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R87C|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R87C|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R87C|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R87C|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R87C	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6									p.R87C(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCCAGTCACGCACAGGATAC	0.607000													10	21					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120814149	120814149	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:120814149G>C	ENST00000378164.2	-	6	975	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	226					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T226S(4)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATATCATGAGTATACACTGT	0.378000													26	58					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072028	197072028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:197072028C>A	ENST00000367409.4	-	18	6609	c.6353G>T	c.(6352-6354)aGg>aTg	p.R2118M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2118	IQ 16.|IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R2118M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGTGGCTGCCCTGTGCATGTG	0.328000													14	38					1.3612e-06	1.48864e-06	1	1	0
AXIN1	8312	broad.mit.edu	37	16	343556	343556	+	Silent	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:343556C>T	ENST00000262320.3	-	8	2489	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	AXIN1_ENST00000354866.3_Silent_p.Q706Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	706	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Q706Q(3)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCCTCCAGCTGGGTTAGGG	0.682000													83	137					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935547	155935547	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:155935547G>A	ENST00000368316.1	-	9	734	c.264C>T	c.(262-264)acC>acT	p.T88T	ARHGEF2_ENST00000361247.4_Silent_p.T115T|ARHGEF2_ENST00000313667.4_Silent_p.T115T|ARHGEF2_ENST00000313695.7_Silent_p.T88T|ARHGEF2_ENST00000368315.3_Silent_p.T116T			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	115					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.T88T(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCCCGGATGGTTGCTGTGG	0.622000													24	40					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255950	72255950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr13:72255950G>T	ENST00000305425.4	-	2	1369	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	DACH1_ENST00000359684.2_Missense_Mutation_p.S316Y|DACH1_ENST00000354591.4_Missense_Mutation_p.S316Y|DACH1_ENST00000313174.7_Missense_Mutation_p.S316Y	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S316Y(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATCCCAGGAGACATGAGACC	0.438000													8	14					0.00307968	0.00312837	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:103477982C>A	ENST00000358392.2	-	14	1969	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	COL11A1_ENST00000353414.4_Missense_Mutation_p.R500I|COL11A1_ENST00000370096.3_Missense_Mutation_p.R539I|COL11A1_ENST00000512756.1_Missense_Mutation_p.R423I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	539	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	p.R539I(2)|p.R551I(2)|p.R539T(1)|p.R551T(1)		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)		AGGACCTGGTCTTCCAGTTAG	0.398000													4	17					1.024e-07	1.14421e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032086	141032086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141032086C>A	ENST00000389484.3	-	85	14020	c.13049G>T	c.(13048-13050)cGc>cTc	p.R4350L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4350	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4350L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTTCATAGCGCGTTGGACA	0.423000										TSP Lung(27;0.18)			14	23					4.14922e-12	4.86917e-12	1	1	0
EPHA7	2045	broad.mit.edu	37	6	93956601	93956601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:93956601C>T	ENST00000369303.4	-	15	2819	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	879	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E879K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGCCTTTCAGCACGCTCC	0.418000													27	15					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060902	76060902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:76060902C>T	ENST00000335749.4	+	4	3055	c.2486C>T	c.(2485-2487)gCa>gTa	p.A829V	TNRC6C_ENST00000588847.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A829V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A832V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A832V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A832V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	832	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.A829V(2)|p.A832V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGGCACAGCAGCATGGGGG	0.577000													20	21					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477349	110477349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:110477349G>T	ENST00000378402.5	+	49	8392	c.8288G>T	c.(8287-8289)tGt>tTt	p.C2763F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2763					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2765F(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTGGAGTTTGTAATGACAGA	0.468000										HNSCC(38;0.096)			36	90					4.4194e-11	5.04794e-11	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87591351	87591351	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:87591351G>C	ENST00000320005.5	-	16	1958	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637					signal transduction|visual perception	integral to membrane	cGMP binding	p.I637M(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTCATGAGGATCCTTTCAG	0.408000													107	99					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19124931	19124931	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:19124931G>A	ENST00000252137.6	-	8	983	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	314					nervous system development	catalytic step 2 spliceosome		p.P314S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCATCATCGGGGACTCGTTC	0.592000													93	139					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770139	37770139	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:37770139T>C	ENST00000402918.1	-	3	2221	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E479G	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	479						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGGCAGCTTCTCCCCGATCAT	0.667000													13	183					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122289	141122289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141122289C>T	ENST00000389484.3	-	72	12043	c.11072G>A	c.(11071-11073)tGg>tAg	p.W3691*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3691	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W3691*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCACACACCCAGAAATGTAG	0.383000										TSP Lung(27;0.18)			3	23					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224306	248224306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:248224306G>T	ENST00000359959.3	+	1	323	c.323G>T	c.(322-324)gGt>gTt	p.G108V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108V(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCATTAGGAGGTGCAGAAGCA	0.438000													44	62					1.15181e-12	1.37681e-12	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100331863	100331863	+	RNA	SNP	C	C	T	rs146847301	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:100331863C>T	ENST00000341853.1	-	0	2328					NR_003260.1																						CTGACTCCCCCTGTACCCATT	0.592000													7	59					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139538	68139538	+	Silent	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:68139538T>A	ENST00000262215.3	-	27	4139	c.3750A>T	c.(3748-3750)ccA>ccT	p.P1250P	ARFGEF1_ENST00000518230.1_Silent_p.P88P|ARFGEF1_ENST00000520381.1_Silent_p.P704P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1250					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P1250P(2)		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)			CTCGAATTGTTGGAGACCTAA	0.368000													15	34					0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1066945	1066945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:1066945C>A	ENST00000433731.2	-	10	672	c.611G>T	c.(610-612)tGg>tTg	p.W204L	RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212	204							zinc ion binding	p.W204L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAAGGTCAACCATGGGATGAA	0.552000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	78					9.8876e-21	1.28991e-20	1	1	0
AEN	64782	broad.mit.edu	37	15	89172497	89172497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:89172497C>T	ENST00000332810.3	+	3	732	c.581C>T	c.(580-582)gCg>gTg	p.A194V	AEN_ENST00000379231.3_Missense_Mutation_p.A194V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	194	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.A194V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGGGCACGCGCTGCACAAC	0.612000													8	264					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819657	141819657	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141819657T>A	ENST00000389484.3	-	8	2170	c.1199A>T	c.(1198-1200)cAa>cTa	p.Q400L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTTCCTTGATAGTCCAC	0.393000										TSP Lung(27;0.18)			16	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246674	113246674	+	Silent	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:113246674A>G	ENST00000297405.5	-	68	10904	c.10660T>C	c.(10660-10662)Tta>Cta	p.L3554L	CSMD3_ENST00000352409.3_Silent_p.L3484L|CSMD3_ENST00000343508.3_Silent_p.L3514L|CSMD3_ENST00000455883.2_Silent_p.L3385L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3554						integral to membrane|plasma membrane		p.L3514L(2)|p.L3554L(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATATGCGTAACATTAGGCGA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	92					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910105	910105	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:910105A>T	ENST00000316157.3	-	3	287	c.247T>A	c.(247-249)Tgg>Agg	p.W83R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCTCCTCCCATGCAGCACTC	0.587000													29	14					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128633	6128633	+	Silent	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:6128633G>A	ENST00000261405.5	-	28	4205	c.3951C>T	c.(3949-3951)gcC>gcT	p.A1317A		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1317	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTCCACCACGGCCACGCGGA	0.637000													6	158					0	0	1	0	0
CNIH1	10175	broad.mit.edu	37	14	54896978	54896978	+	Splice_Site	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:54896978C>G	ENST00000216416.4	-	4	511		c.e4+1		CNIH_ENST00000556113.1_Silent_p.G136G|CNIH_ENST00000395573.4_Intron|CNIH_ENST00000553660.1_Splice_Site|CNIH_ENST00000557690.1_Splice_Site	NM_005776.2	NP_005767.1	O95406	CNIH_HUMAN							immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(112;0.00341)		TTTCAACTTACCCATATAGGT	0.328000													6	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr18:50278670G>C	ENST00000442544.2	+	2	954	c.338G>C	c.(337-339)gGa>gCa	p.G113A	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	113	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G113A(2)|p.G113V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGATGAGGGACTTTACCAA	0.448000													20	14					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156742940	156742940	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:156742940C>A	ENST00000275820.3	+	1	524	c.509C>A	c.(508-510)gCc>gAc	p.A170D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	170	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.A170D(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACCGCCGCTGCCCGGAAACGG	0.677000													6	97					0.00116845	0.00119638	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512000										HNSCC(3;0.000094)			42	65					5.34276e-22	7.11445e-22	1	1	0
FSCB	84075	broad.mit.edu	37	14	44973886	44973886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:44973886G>A	ENST00000340446.4	-	1	2596	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	769						cilium		p.P769S(2)		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)		TTTACTGCTGGAATTCCTGCC	0.408000													16	71					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066370	106066370	+	RNA	SNP	T	T	C	rs1134593		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:106066370T>C	ENST00000412518.1	-	0	6				IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA																							CACAGCTGGATGGAGCCCTGG	0.602000													9	267					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286349	152286349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:152286349G>T	ENST00000368799.1	-	3	1048	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	338	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S338Y(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATCATGGGACCTGGGGTG	0.562000									Ichthyosis				120	168					1.34936e-44	1.88471e-44	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49998266	49998266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:49998266C>T	ENST00000257894.2	-	2	313	c.152G>A	c.(151-153)cGc>cAc	p.R51H	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.R51H|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	51						protein complex		p.R51H(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCTGGAAGCGGTTGATGAC	0.408000													9	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001659	177001659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:177001659G>T	ENST00000367654.2	-	3	811	c.798C>A	c.(796-798)agC>agA	p.S266R	ASTN1_ENST00000361833.2_Missense_Mutation_p.S266R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S266R|ASTN1_ENST00000367657.3_Missense_Mutation_p.S266R			O14525	ASTN1_HUMAN	astrotactin 1	266					cell migration|neuron cell-cell adhesion	integral to membrane		p.S266R(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGTGACCTGGCTGGCAAAGT	0.597000													69	108					5.26073e-25	7.15347e-25	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:39869182G>C	ENST00000538976.1	+	24	3095	c.2913G>C	c.(2911-2913)cgG>cgC	p.R971R	DAAM2_ENST00000274867.4_Silent_p.R972R|DAAM2_ENST00000398904.2_Silent_p.R972R	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607000													38	77					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73539147	73539147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:73539147C>T	ENST00000224721.6	+	40	5331	c.5326C>T	c.(5326-5328)Cga>Tga	p.R1776*		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1771	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R1776*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCCCATGACCGAGACTCAGG	0.622000													3	32					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:11501681C>T	ENST00000423059.3	-	10	2709	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.					integral to membrane		p.E820K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)			61	103					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795413	66795413	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:66795413G>C	ENST00000307961.6	-	3	357	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q89E(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AAAGCACCCTGGCCAGAGCGG	0.493000													14	34					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30136919	30136919	+	Splice_Site	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:30136919T>C	ENST00000335574.5	+	5	664		c.e5+2		HM13_ENST00000376127.3_Splice_Site|HM13_ENST00000492709.1_Splice_Site|HM13_ENST00000398174.3_Splice_Site|HM13_ENST00000340852.5_Splice_Site	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTGAGGAAGGTGAGTAGTCAG	0.572000													15	416					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107650	35107650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr9:35107650C>A	ENST00000378561.1	-	2	3677	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	FAM214B_ENST00000378557.1_Missense_Mutation_p.G208W|FAM214B_ENST00000605244.1_Missense_Mutation_p.G208W|FAM214B_ENST00000322813.5_Missense_Mutation_p.G208W|FAM214B_ENST00000378554.2_Missense_Mutation_p.G208W|FAM214B_ENST00000603301.1_Missense_Mutation_p.G208W|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.G208W			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	208						nucleus		p.G208L(2)									AGGCTACCCCCATTGCCCACC	0.657000													19	31					1.00905e-13	1.24079e-13	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188216867	188216867	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:188216867T>C	ENST00000409998.1	-	14	1883	c.1102A>G	c.(1102-1104)Atc>Gtc	p.I368V	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.I368V|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I368V			Q16602	CALRL_HUMAN	calcitonin receptor-like	368						integral to plasma membrane		p.I368V(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGTGCATGATGTAGTCATAT	0.413000													5	14					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839787	27839787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:27839787T>A	ENST00000356790.2	+	3	609	c.364T>A	c.(364-366)Ttg>Atg	p.L122M		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	122	MAGE.							p.L122M(2)|p.L122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTGCATTACTTGCTGTACAA	0.428000													26	3					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													14	39					1.05317e-09	1.19763e-09	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821395	151821395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:151821395A>T	ENST00000370306.2	+	9	1570	c.1550A>T	c.(1549-1551)aAg>aTg	p.K517M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.K517M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTGGGAAGCCCATGCTT	0.547000													65	67					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62630480	62630480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:62630480G>C	ENST00000535781.1	+	7	965	c.854G>C	c.(853-855)gGa>gCa	p.G285A	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	285					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.G285A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCGACACACGGAGGAGACATC	0.502000													10	57					0	0	1	0	0
CDIP1	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	C	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:4563767C>A	ENST00000399599.3	-	3	719	c.171G>T	c.(169-171)ccG>ccT	p.P57P	CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000567695.1_Silent_p.P57P|CDIP1_ENST00000563507.1_Silent_p.P57P|CDIP1_ENST00000564828.1_Silent_p.P22P|CDIP1_ENST00000563332.2_Silent_p.P57P					cell death-inducing p53 target 1									p.P57P(2)									TTGGGTGACCCGGCGGCTCAT	0.652000													64	85					2.94687e-45	4.13851e-45	1	1	0
WDR89	112840	broad.mit.edu	37	14	64065716	64065716	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr14:64065716G>C	ENST00000394942.2	-	2	1033	c.945C>G	c.(943-945)agC>agG	p.S315R	WDR89_ENST00000267522.3_Missense_Mutation_p.S315R|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	315								p.S315R(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTCCCTGAAGGCTAGTCACAT	0.438000													31	33					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969655	118969655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:118969655C>G	ENST00000334549.1	+	3	1000	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane		p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423000													42	102					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521630	182521630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:182521630G>T	ENST00000410087.3	-	1	204	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Missense_Mutation_p.S35Y|CERKL_ENST00000374970.2_Missense_Mutation_p.S35Y|CERKL_ENST00000339098.5_Missense_Mutation_p.S35Y|CERKL_ENST00000374969.2_Missense_Mutation_p.S35Y	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	35					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.S35Y(4)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGCTGCGGGGACGTTAACAG	0.711000													10	30					8.34094e-07	9.16077e-07	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													8	2					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773419	141773419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:141773419G>T	ENST00000389484.3	-	13	3007	c.2036C>A	c.(2035-2037)gCc>gAc	p.A679D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	679					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A679E(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCATCCAGGCCTTCTCAAT	0.408000										TSP Lung(27;0.18)			23	51					3.28513e-13	4.00132e-13	1	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	84					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:190067177C>G	ENST00000367462.3	-	8	2503	c.2272G>C	c.(2272-2274)Gat>Cat	p.D758H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D656H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		758						extracellular region		p.D758H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000													29	52					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561369	15561369	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:15561369T>C	ENST00000344577.2	-	2	506	c.481A>G	c.(481-483)Att>Gtt	p.I161V	LIPI_ENST00000536861.1_Missense_Mutation_p.I140V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	140					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.I161V(2)		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)		AGATTTTTAATGTGCACACTC	0.328000													4	18					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364654	10364655	+	Frame_Shift_Ins	INS	-	-	AGAC			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:10364654_10364655insAGAC	ENST00000377093.4	+	21	3564_3565	c.3411_3412insAGAC	c.(3409-3414)aggacafs	p.T1138fs	KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1138fs|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGGATGAGGAGACAGTTCTC	0.480													34	189	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													10	682	---	---	---	---					
EIF4G3	8672	broad.mit.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:21306904_21306905insG	ENST00000602326.1	-	8	851_852	c.268_269insC	c.(268-270)acafs	p.T90fs	EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.T90fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.T94fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441													8	62	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													7	311	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1642-1647)caccccfs	p.HP548fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	548					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y551fs*72(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	341	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	261	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													15	575	---	---	---	---					
FABP3	2170	broad.mit.edu	37	1	31842272	31842273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:31842272_31842273insC	ENST00000373713.2	-	2	266_267	c.205_206insG	c.(205-207)ggafs	p.G69fs	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	69					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ATCGAACTCCACCCCCAACTTA	0.475													8	1236	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													7	158	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													7	65	---	---	---	---					
ZCCHC11	23318	broad.mit.edu	37	1	52981531	52981532	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:52981531_52981532insC	ENST00000355809.4	-	3	1069_1070	c.913_914insG	c.(913-915)aatfs	p.N305fs	ZCCHC11_ENST00000257177.4_Intron|ZCCHC11_ENST00000371544.3_Intron|ZCCHC11_ENST00000371541.1_Intron			Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	0					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AACACACATTTCCCCCCAAATA	0.366													7	165	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													15	284	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													15	353	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396													8	611	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													8	267	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													7	190	---	---	---	---					
NTNG1	22854	broad.mit.edu	37	1	107866959	107866960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:107866959_107866960insC	ENST00000370067.1	+	3	929_930	c.302_303insC	c.(301-303)cccfs	p.P101fs	NTNG1_ENST00000370073.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000542803.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370070.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370061.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370065.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370066.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370068.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370072.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370074.4_Frame_Shift_Ins_p.P101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCTGGCACACCCCCCTGAGC	0.485													9	595	---	---	---	---					
MAGI3	260425	broad.mit.edu	37	1	114216006	114216007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:114216006_114216007insG	ENST00000369615.1	+	19	3170_3171	c.3108_3109insG	c.(3106-3111)cgggggfs	p.RG1036fs	MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000307546.9_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.RG1061fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1061					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCCTCCGAGGGGGGAAGGA	0.490													7	247	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													11	248	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													9	296	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	45					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584													9	503	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	264	---	---	---	---					
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C	rs151038984		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-87)tccfs	p.S29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629													8	302	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													8	898	---	---	---	---					
ATP8B2	57198	broad.mit.edu	37	1	154315767	154315767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:154315767delG	ENST00000368489.3	+	16	1731	c.1731delG	c.(1729-1731)atfs	p.M577fs		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	563					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAGCGGATGTCGGTCATAG	0.582													11	45	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													11	3035	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													12	548	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													10	577	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													33	700	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845332	182845333	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:182845332_182845333insT	ENST00000367549.3	+	17	2073_2074	c.1963_1964insT	c.(1963-1965)tttfs	p.F655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCTGTGTTGGTTTTTTTGCCT	0.381													7	492	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													12	329	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													15	250	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													21	331	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	638	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													8	186	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													16	861	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													9	820	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237774123	237774124	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:237774123_237774124insC	ENST00000366574.2	+	36	5062_5063	c.4745_4746insC	c.(4744-4746)tccfs	p.S1582fs	RYR2_ENST00000542537.1_Frame_Shift_Ins_p.S1566fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.S1580fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1582	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			GTGCCGCAGTGCCCCCCGCGCC	0.530													10	116	---	---	---	---					
AGBL5	60509	broad.mit.edu	37	2	27278900	27278901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:27278900_27278901insC	ENST00000360131.4	+	7	1418_1419	c.1259_1260insC	c.(1258-1260)accfs	p.T420fs	AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515													11	260	---	---	---	---					
BRE	9577	broad.mit.edu	37	2	28248272	28248273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:28248272_28248273insA	ENST00000344773.2	+	5	618_619	c.480_481insA	c.(478-483)ggaaaafs	p.GK160fs	BRE_ENST00000342045.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379624.1_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000361704.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379632.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000603461.1_3'UTR	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	160					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTTATGCTGGGAAAAAAAACAA	0.391													9	140	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													12	111	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													7	664	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	488	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													7	448	---	---	---	---					
POLR1B	84172	broad.mit.edu	37	2	113306848	113306849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:113306848_113306849insG	ENST00000263331.5	+	4	1077_1078	c.497_498insG	c.(496-498)aggfs	p.R166fs	POLR1B_ENST00000541869.1_Frame_Shift_Ins_p.R204fs|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000417433.2_Frame_Shift_Ins_p.R110fs|POLR1B_ENST00000409894.3_Frame_Shift_Ins_p.R166fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	166					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGCAGGAAATGGGGGGCTATT	0.366													7	267	---	---	---	---					
CNTNAP5	129684	broad.mit.edu	37	2	125261956	125261957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:125261956_125261957insC	ENST00000431078.1	+	8	1511_1512	c.1147_1148insC	c.(1147-1149)cccfs	p.P383fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	383	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTGCCCGGCACCCCCCAAATT	0.525													8	149	---	---	---	---					
MCM6	4175	broad.mit.edu	37	2	136622724	136622725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:136622724_136622725insC	ENST00000264156.2	-	7	996_997	c.936_937insG	c.(934-939)ggaagafs	p.R313fs		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	313					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTGAGCTCTTTCCCCCCAAACT	0.376													8	365	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													9	142	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													18	398	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	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						GCGCCTCCAATCCCCCCCACAT	0.465													8	362	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													26	1012	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196825397	196825397	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:196825397delT	ENST00000312428.6	-	18	2578	c.2478delA	c.(2476-2478)aafs	p.K826fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	826	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K826N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGATCTTACTTTTTTTGTCA	0.423													8	797	---	---	---	---					
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:197171262_197171263insG	ENST00000260983.2	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cctgaafs	p.E922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.530													9	460	---	---	---	---					
GPR1	2825	broad.mit.edu	37	2	207041591	207041592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:207041591_207041592insA	ENST00000407325.2	-	3	742_743	c.380_381insT	c.(379-381)tctfs	p.S127fs	GPR1_ENST00000437420.1_Frame_Shift_Ins_p.S127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACACT	0.455													7	431	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													18	296	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													9	292	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								9	178	---	---	---	---					
CIDEC	63924	broad.mit.edu	37	3	9918830	9918830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:9918830delG	ENST00000336832.2	-	3	266	c.127delC	c.(127-129)ggfs	p.R43fs	CIDEC_ENST00000430427.1_Frame_Shift_Del_p.R43fs|CIDEC_ENST00000443115.1_Frame_Shift_Del_p.R43fs|CIDEC_ENST00000383817.1_Frame_Shift_Del_p.R43fs|CIDEC_ENST00000455015.1_Intron|CIDEC_ENST00000423850.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	43	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CGGCAGGGCCGGGCCCTGGGG	0.642													2	4	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	44	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													12	250	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97851841	97851842	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:97851841_97851842insT	ENST00000354565.2	+	1	300_301	c.300_301insT	c.(298-303)cattttfs	p.HF100fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGATACAGTTTTTTTCGTT	0.396													7	1303	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													10	684	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													10	2046	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													12	1412	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													8	571	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													8	781	---	---	---	---					
CASR	846	broad.mit.edu	37	3	122003039	122003040	+	Frame_Shift_Ins	INS	-	-	C	rs149557554	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:122003039_122003040insC	ENST00000498619.1	+	7	2706_2707	c.2268_2269insC	c.(2266-2271)gcccccfs	p.AP756fs	CASR_ENST00000490131.1_Frame_Shift_Ins_p.AP746fs|CASR_ENST00000296154.5_Frame_Shift_Ins_p.AP746fs	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	746					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTACACCGCGCCCCCGTCAAG	0.589													8	400	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													21	218	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													12	1459	---	---	---	---					
TM4SF4	7104	broad.mit.edu	37	3	149192693	149192694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:149192693_149192694insG	ENST00000305354.4	+	1	933_934	c.29_30insG	c.(28-30)cggfs	p.R10fs		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	10						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACCC	0.535													8	151	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	575	---	---	---	---					
TNFSF10	8743	broad.mit.edu	37	3	172241148	172241149	+	Frame_Shift_Ins	INS	-	-	C	rs138912628		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:172241148_172241149insC	ENST00000241261.2	-	1	148_149	c.26_27insG	c.(25-27)gccfs	p.A9fs	TNFSF10_ENST00000420541.2_Frame_Shift_Ins_p.A9fs	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	9					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCTGGGTCCCCCCTGGAC	0.535													7	650	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													10	371	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362543	186362544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:186362543_186362544insA	ENST00000265029.3	+	4	529_530	c.428_429insA	c.(427-429)taafs	p.*143fs	FETUB_ENST00000382136.3_Frame_Shift_Ins_p.*106fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.*78fs|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.*143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCAACAGTTTCAAAAAAAAAGA	0.421													8	561	---	---	---	---					
FGF12	2257	broad.mit.edu	37	3	192053255	192053256	+	Splice_Site	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:192053255_192053256insG	ENST00000454309.2	-	3	1136		c.e3-2		FGF12_ENST00000450716.1_Splice_Site|FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000445105.1_Splice_Site|FGF12_ENST00000264730.3_Splice_Site	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAAGAGAGCTGGGGGGAGAAA	0.426													7	435	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:5785361_5785362insC	ENST00000382674.2	+	12	1830_1831	c.1646_1647insC	c.(1645-1647)cccfs	p.P549fs	EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs			P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584													20	754	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:15067857_15067858insT	ENST00000538197.1	+	12	2958_2959	c.2958_2959insT	c.(2956-2961)ccttttfs	p.PF986fs	CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441													18	989	---	---	---	---					
GPR125	166647	broad.mit.edu	37	4	22390062	22390063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:22390062_22390063insG	ENST00000334304.5	-	19	3500_3501	c.3231_3232insC	c.(3229-3234)ccactcfs	p.L1078fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1078					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTAGAGTTGGGGGGCTGGA	0.500													8	282	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													7	192	---	---	---	---					
ADH4	127	broad.mit.edu	37	4	100063853	100063854	+	Frame_Shift_Ins	INS	-	-	G	rs61754858	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:100063853_100063854insG	ENST00000508393.1	-	3	318_319	c.153_154insC	c.(151-156)ccaggcfs	p.G52fs	ADH4_ENST00000505590.1_Frame_Shift_Ins_p.G52fs|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Frame_Shift_Ins_p.G52fs|ADH4_ENST00000265512.7_Frame_Shift_Ins_p.G33fs|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	33				T -> S (in Ref. 1; AAA51595 and 2; CAA39813).	alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCATGAGCCTTGGGGGGAGCTA	0.510													7	208	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													7	379	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													8	364	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			11	854	---	---	---	---					
MED10	84246	broad.mit.edu	37	5	6372635	6372636	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:6372635_6372636insC	ENST00000255764.3	-	4	498_499	c.388_389insG	c.(388-390)ggafs	p.G130fs		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CGGGTGATCCTCCCCCCGGATG	0.495													7	243	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													15	240	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													8	621	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													8	143	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													10	246	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													12	129	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													13	316	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													7	148	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													11	267	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	762	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													13	468	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						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)		TGAAACCGCCTCCCCCCCATAA	0.485													17	537	---	---	---	---					
HIVEP1	3096	broad.mit.edu	37	6	12121132	12121133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:12121132_12121133insC	ENST00000379388.2	+	4	1436_1437	c.1104_1105insC	c.(1102-1107)tcccccfs	p.SP368fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	368					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACAGTCGCCCCCCATGCC	0.421													7	458	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													18	405	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													7	229	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													37	2122	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)cgcfs	p.R574fs	GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCTGGTCAGCTGGGGGGGACCC	0.540													10	208	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													11	192	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1																						ATTCCACTGTGAGAGGGCTCAT	0.396													18	64	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	326	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													14	221	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													10	764	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84930836	84930836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:84930836delT	ENST00000403245.3	-	3	225	c.111delA	c.(109-111)aafs	p.K37fs	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	37					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTTCATCTCTTTTTTAGATT	0.289													7	819	---	---	---	---					
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Frame_Shift_Ins	INS	-	-	G	rs75302347		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:108076790_108076791insG	ENST00000369021.3	-	1	52_53	c.53_54insC	c.(52-54)cttfs	p.L18fs	SCML4_ENST00000369022.2_Intron|SCML4_ENST00000369020.3_Intron			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.480													8	328	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2491-2496)ctccccfs	p.LP831fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													7	277	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													15	468	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													13	275	---	---	---	---					
TAB2	23118	broad.mit.edu	37	6	149700166	149700167	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:149700166_149700167insC	ENST00000367456.1	+	4	1692_1693	c.1115_1116insC	c.(1114-1116)accfs	p.T372fs	TAB2_ENST00000392282.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000286332.5_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.T340fs			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	372					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.S372S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATAGCTGCCAGCCCCCCAAATA	0.495													9	247	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													7	130	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)ggaaatfs	p.N161fs	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525													10	140	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)aaafs	p.K60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGAGTCAGACCAAAAAAAACCA	0.436													13	509	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													8	277	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													17	763	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													7	365	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													14	356	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													22	544	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													9	715	---	---	---	---					
PLAG1	5324	broad.mit.edu	37	8	57078931	57078932	+	Frame_Shift_Ins	INS	-	-	G	rs144552372		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:57078931_57078932insG	ENST00000316981.3	-	5	1852_1853	c.1373_1374insC	c.(1372-1374)ccafs	p.P458fs	PLAG1_ENST00000429357.2_Frame_Shift_Ins_p.P458fs|PLAG1_ENST00000423799.2_Frame_Shift_Ins_p.P376fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	458	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		P -> T (in dbSNP:rs35883156).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCTGTGTTTGTGGGGGGAGCTG	0.490			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	273	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					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)			GAGATGGAGGTGGGGGGGCAGT	0.421													17	498	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1686)cttfs	p.L562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													9	269	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													10	176	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													10	2087	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													11	667	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			11	108	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81571879	81571880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:81571879_81571880insG	ENST00000327835.3	-	7	1203_1204	c.972_973insC	c.(970-975)ccatggfs	p.W325fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	325						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGCTGCCATTGGGGGTGAACT	0.470													7	917	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)tgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													9	1625	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													7	91	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaaaggfs	p.R2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381													11	286	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124663996	124663997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:124663996_124663997insC	ENST00000325995.7	-	1	1193_1194	c.1170_1171insG	c.(1168-1173)ggttggfs	p.W391fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	391										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCTCCAATCCCCCCGATGG	0.589													7	368	---	---	---	---					
ANXA13	312	broad.mit.edu	37	8	124707761	124707762	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:124707761_124707762insT	ENST00000262219.6	-	7	641_642	c.574_575insA	c.(574-576)cctfs	p.P192fs	ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGACACCAGGATTTTTTTTAGG	0.411													7	641	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													11	201	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													9	366	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													10	382	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													10	195	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													19	383	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													9	416	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													7	707	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								9	373	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													15	487	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-348)accfs	p.T116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545													10	490	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													7	284	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													8	810	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:95169434_95169435insC	ENST00000371501.4	-	6	617_618	c.495_496insG	c.(493-498)ggccaafs	p.Q166fs	MYOF_ENST00000371489.1_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000359263.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.Q166fs			Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535													53	1008	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													8	871	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													10	953	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													7	232	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													13	663	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1																						GAAGCAAATGTAAAAAAAAAAA	0.386													9	7	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													7	1283	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													8	217	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													8	49	---	---	---	---					
CARNS1	57571	broad.mit.edu	37	11	67187240	67187240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:67187240delC	ENST00000445895.2	+	6	1158	c.1044delC	c.(1042-1044)ggfs	p.G348fs	CARNS1_ENST00000423745.2_Frame_Shift_Del_p.G225fs|CARNS1_ENST00000307823.3_Frame_Shift_Del_p.G225fs|CARNS1_ENST00000531040.1_Frame_Shift_Del_p.G348fs			A5YM72	CRNS1_HUMAN	carnosine synthase 1	225					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTTCACCCGGCCCCGGCCTGG	0.657													2	4	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								9	560	---	---	---	---					
RP11-807H22.5	0	broad.mit.edu	37	11	71870036	71870037	+	RNA	INS	-	-	C	rs10751198	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:71870036_71870037insC	ENST00000542477.2	+	0	160_161																											TTTACGAGTGACCCCCCAACTT	0.535													8	294	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													15	325	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													8	258	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	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)		AATCCTGGCACGGGGGGAGATC	0.495													37	2034	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(31-36)ctggggfs	p.LG11fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	11						integral to membrane|tight junction	structural molecule activity	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.550													8	292	---	---	---	---					
NXPE1	120400	broad.mit.edu	37	11	114401366	114401366	+	Translation_Start_Site	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:114401366delG	ENST00000251921.2	-	0	354				NXPE1_ENST00000536312.1_Frame_Shift_Del_p.L122fs|NXPE1_ENST00000424269.1_Frame_Shift_Del_p.L122fs	NM_152315.2	NP_689528.2			neurexophilin and PC-esterase domain family, member 1																		CTCACCTCCAGTAGGATGTCC	0.567													12	652	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													7	590	---	---	---	---					
DSCAML1	57453	broad.mit.edu	37	11	117321331	117321332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:117321331_117321332insG	ENST00000321322.6	-	20	3822_3823	c.3821_3822insC	c.(3820-3822)cacfs	p.H1274fs	DSCAML1_ENST00000527706.1_Frame_Shift_Ins_p.H1004fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1214	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGCTTGGTAGGGGGGAGCCA	0.589													12	535	---	---	---	---					
OR10G9	219870	broad.mit.edu	37	11	123893833	123893833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:123893833delG	ENST00000375024.1	+	1	114	c.114delG	c.(112-114)ctfs	p.L38fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTGCTGGGGAACCTCC	0.572													633	419	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													30	1929	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909592	123909592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:123909592delC	ENST00000330487.5	-	1	125	c.117delG	c.(115-117)ggfs	p.G39fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAGGAGGTTCCCCAGCACAG	0.567													61	318	---	---	---	---					
ARHGAP32	9743	broad.mit.edu	37	11	128855909	128855910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:128855909_128855910insG	ENST00000310343.9	-	14	1471_1472	c.1472_1473insC	c.(1471-1473)cccfs	p.P491fs	ARHGAP32_ENST00000392657.3_Frame_Shift_Ins_p.P142fs|ARHGAP32_ENST00000524655.1_Frame_Shift_Ins_p.P417fs|ARHGAP32_ENST00000527272.1_Frame_Shift_Ins_p.P142fs	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	491	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTAGTGTGGTGGGGGGAGCTG	0.431													7	368	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													28	1728	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													8	157	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													20	430	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								10	770	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604													7	357	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													8	226	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													8	465	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177851	7177852	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:7177851_7177852insG	ENST00000406697.1	+	15	2591_2592	c.1963_1964insG	c.(1963-1965)gggfs	p.G655fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.G488fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.G655fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.G655fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	655	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCTGGTGTCCTGGGGGCCCCAG	0.535													7	1192	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													7	792	---	---	---	---					
CLSTN3	9746	broad.mit.edu	37	12	7286328	7286329	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:7286328_7286329insG	ENST00000537408.1	+	2	921_922	c.383_384insG	c.(382-384)gggfs	p.G128fs	CLSTN3_ENST00000266546.6_Frame_Shift_Ins_p.G116fs			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	116	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACTGTGGCGAGGGCCCCGACG	0.634													8	451	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													16	2530	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557													36	1295	---	---	---	---					
DDX47	51202	broad.mit.edu	37	12	12974637	12974638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:12974637_12974638insA	ENST00000358007.3	+	4	441_442	c.419_420insA	c.(418-420)gaafs	p.E140fs	DDX47_ENST00000352940.4_Frame_Shift_Ins_p.E140fs|RP11-59H1.3_ENST00000534843.1_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	140	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTGGCCCTTGCAAAAAAACCAC	0.361													11	311	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													27	1092	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													11	243	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													12	225	---	---	---	---					
CALCOCO1	57658	broad.mit.edu	37	12	54115378	54115378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:54115378delC	ENST00000548263.1	-	6	679	c.631delG	c.(631-633)agfs	p.E211fs	CALCOCO1_ENST00000430117.2_Frame_Shift_Del_p.E178fs|CALCOCO1_ENST00000550804.1_Frame_Shift_Del_p.E211fs|CALCOCO1_ENST00000262059.4_Frame_Shift_Del_p.E211fs			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	211					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGTGATCTCCCCATGGGAC	0.527													7	1342	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													26	3381	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													19	667	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:56559112_56559113insG	ENST00000394023.3	-	27	3326_3327	c.3221_3222insC	c.(3220-3222)cggfs	p.R1074fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574													10	150	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													10	207	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								16	486	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													13	299	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			7	302	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81741386	81741387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:81741386_81741387insG	ENST00000550584.2	-	17	2452_2453	c.2157_2158insC	c.(2155-2160)ccgtggfs	p.W720fs	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000550359.2_Frame_Shift_Ins_p.W567fs|PPFIA2_ENST00000548586.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000552948.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Frame_Shift_Ins_p.W702fs|PPFIA2_ENST00000541570.2_Frame_Shift_Ins_p.W287fs|PPFIA2_ENST00000549396.1_Frame_Shift_Ins_p.W720fs|PPFIA2_ENST00000443686.3_Frame_Shift_Ins_p.W621fs|PPFIA2_ENST00000407050.4_Frame_Shift_Ins_p.W646fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	646										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGTGTCCACTGGGGGGAGATG	0.550													12	596	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													8	383	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(382-387)gattttfs	p.DF128fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													8	1307	---	---	---	---					
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-309)aggfs	p.R103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.R103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396													11	302	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	559	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	379	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													16	579	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													19	308	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													9	635	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													7	1881	---	---	---	---					
GZMH	2999	broad.mit.edu	37	14	25075937	25075938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:25075937_25075938insC	ENST00000216338.4	-	5	656_657	c.612_613insG	c.(610-615)ggccctfs	p.GP204fs	GZMH_ENST00000557220.2_Frame_Shift_Ins_p.GP73fs|GZMH_ENST00000382548.4_Frame_Shift_Ins_p.GP118fs|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	204	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACACGAGGGGCCCCCCGGAGT	0.535													8	262	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													8	430	---	---	---	---					
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs149471226		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1041)gggfs	p.G347fs	CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta									p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599													8	75	---	---	---	---					
FAM71D	161142	broad.mit.edu	37	14	67664852	67664853	+	Splice_Site	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:67664852_67664853insT	ENST00000556046.1	+	3	198_199		c.e3-1					Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D											breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CATTCCCTCAGTTTTTTTATGT	0.347													7	355	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					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)		ACTGGTTCTGTGGGGGGCACTT	0.495													7	377	---	---	---	---					
GPR65	8477	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(361-366)aattttfs	p.NF121fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	121					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426													7	509	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374																											CCTTGGGTTTTGGGGGGAACAG	0.619													8	267	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													8	201	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:40477505_40477506insC	ENST00000287598.6	+	7	1086_1087	c.891_892insC	c.(889-894)gcccccfs	p.AP297fs	BUB1B_ENST00000412359.3_Frame_Shift_Ins_p.AP311fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	680	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	129	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43730535	43730536	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:43730535_43730536insG	ENST00000263801.3	-	16	3414_3415	c.3162_3163insC	c.(3160-3165)ccccacfs	p.H1055fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.H1060fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.H1060fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.H1060fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1055					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGGTGTGGTGGGGGGATCCT	0.436								Other conserved DNA damage response genes					7	215	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs|UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													7	756	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	677	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													16	400	---	---	---	---					
OR4F6	390648	broad.mit.edu	37	15	102346204	102346205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr15:102346204_102346205insG	ENST00000328882.4	+	1	303_304	c.282_283insG	c.(280-285)ttggggfs	p.LG94fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATCTCTTTTGGGGGCTGTGT	0.455													7	1188	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													8	343	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2403)cggfs	p.R801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.510													10	140	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													9	440	---	---	---	---					
MYH13	8735	broad.mit.edu	37	17	10213124	10213124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:10213124delG	ENST00000418404.3	-	33	4843	c.4680delC	c.(4678-4680)agfs	p.S1560fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.S1560fs|MYH13_ENST00000570743.1_Frame_Shift_Del_p.S1560fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1560					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCAAGATCTTGCTCTCCTCGT	0.488													21	8	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)del	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													7	212	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													9	194	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													16	960	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)gggfs	p.G1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			34	525	---	---	---	---					
GSDMB	55876	broad.mit.edu	37	17	38065269	38065270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:38065269_38065270insG	ENST00000394175.2	-	4	825_826	c.602_603insC	c.(601-603)caafs	p.Q201fs	GSDMB_ENST00000360317.3_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000394179.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000418519.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000309481.7_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000520542.1_Frame_Shift_Ins_p.Q201fs	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	201						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGACCCGATTTGGGGGGATGGT	0.505													15	1273	---	---	---	---					
THRA	7067	broad.mit.edu	37	17	38243082	38243083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:38243082_38243083insA	ENST00000450525.2	+	7	1190_1191	c.699_700insA	c.(697-702)gcaaaafs	p.AK233fs	THRA_ENST00000546243.1_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000584985.1_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000394121.4_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000264637.4_Frame_Shift_Ins_p.AK233fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	233	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGACTTTGCCAAAAAACTGCC	0.579											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	1058	---	---	---	---					
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1594-1599)gaccccfs	p.DP532fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	532	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.500													8	897	---	---	---	---					
KRT24	192666	broad.mit.edu	37	17	38859543	38859544	+	Frame_Shift_Ins	INS	-	-	C	rs151132210		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:38859543_38859544insC	ENST00000264651.2	-	1	458_459	c.402_403insG	c.(400-405)ggttttfs	p.GF134fs		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	134	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.L135I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAGAGAAAAGCCCCCCATCGC	0.535													8	1790	---	---	---	---					
KRT34	3885	broad.mit.edu	37	17	39538426	39538427	+	Frame_Shift_Ins	INS	-	-	G	rs148417834		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:39538426_39538427insG	ENST00000394001.1	-	1	228_229	c.198_199insC	c.(196-201)ccgctgfs	p.L67fs		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	67	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACGC	0.624													13	482	---	---	---	---					
JUP	3728	broad.mit.edu	37	17	39923834	39923835	+	Splice_Site	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:39923834_39923835insG	ENST00000393931.3	-	5	826		c.e5-2		JUP_ENST00000310706.5_Splice_Site|JUP_ENST00000540235.1_Splice_Site|JUP_ENST00000393930.1_Splice_Site	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin						adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACAGGGGAGCTGGGGGGGTGGG	0.658													8	225	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													26	544	---	---	---	---					
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(424-429)gcggggfs	p.AG142fs		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	142					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTCCATTGCTGGGGGGACAGG	0.505													9	884	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													19	999	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41582094	41582095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:41582094_41582095insG	ENST00000262415.3	+	12	1701_1702	c.1629_1630insG	c.(1627-1632)ttggggfs	p.LG543fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.LG543fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	543						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCATGCCTTTGGGGGCAACAA	0.505													8	1704	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													8	176	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													15	253	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													28	1094	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													11	821	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													13	1145	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-444)gccfs	p.A148fs	ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554													8	911	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67697248	67697249	+	Splice_Site	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr18:67697248_67697249insT	ENST00000255674.6	-	42	6030_6031	c.5745_splice	c.e42+1	p.R1915_splice	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAATGTTACCTTTTTTTTCAA	0.401													7	260	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													16	201	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													7	304	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													10	521	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													7	229	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													8	131	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													20	403	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													15	242	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													8	137	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													27	422	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													25	800	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)tgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323													7	202	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													8	118	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													15	224	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													10	985	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													7	315	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	447	---	---	---	---					
SH3BP1	23616	broad.mit.edu	37	22	38051313	38051314	+	Frame_Shift_Ins	INS	-	-	C	rs70950549		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:38051313_38051314insC	ENST00000357436.4	+	18	2041_2042	c.1728_1729insC	c.(1726-1731)ccccccfs	p.PP576fs	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	576					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCACCATGCCGCCCCCCCAGGT	0.718													4	6	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													33	641	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													42	625	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													9	150	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													9	356	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													9	848	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													7	486	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													7	253	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73960933	73960934	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:73960933_73960934insT	ENST00000373468.1	-	3	4109_4110	c.3458_3459insA	c.(3457-3459)accfs	p.T1153fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.T1153fs			Q5QGS0	K2022_HUMAN	KIAA2022	1153					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAGGCAAGGGTTTTTTTGGAG	0.401													7	407	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													8	651	---	---	---	---					
VSIG1	340547	broad.mit.edu	37	X	107310311	107310312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:107310311_107310312insC	ENST00000415430.3	+	4	628_629	c.467_468insC	c.(466-468)accfs	p.T156fs	VSIG1_ENST00000217957.5_Frame_Shift_Ins_p.T120fs|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	120	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GATGTTAACAACCCCCCAGACT	0.436													9	548	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													9	625	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153940634	153940635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	f913dee6-7139-469b-b458-bd84986e2295	g.chrX:153940634_153940635insG	ENST00000369575.3	-	4	966_967	c.935_936insC	c.(934-936)caafs	p.Q312fs	GAB3_ENST00000424127.2_Frame_Shift_Ins_p.Q313fs|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	312										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTGGCTTAGGGGGGCGGGG	0.495													10	408	---	---	---	---					
KIF1B	23095	broad.mit.edu	37	1	10364654	10364655	+	Frame_Shift_Ins	INS	-	-	AGAC			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:10364654_10364655insAGAC	ENST00000377093.4	+	21	3564_3565	c.3411_3412insAGAC	c.(3409-3414)aggacafs	p.T1138fs	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1138fs|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGGATGAGGAGACAGTTCTC	0.480													8	44	---	---	---	---					
ATP8B2	57198	broad.mit.edu	37	1	154315767	154315767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr1:154315767delG	ENST00000368489.3	+	16	1731	c.1731delG	c.(1729-1731)atfs	p.M577fs		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	563					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAGCGGATGTCGGTCATAG	0.582													17	89	---	---	---	---					
AC144450.1	0	broad.mit.edu	37	2	1601343	1601346	+	RNA	DEL	ACAT	ACAT	-	rs139499806	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr2:1601343_1601346delACAT	ENST00000438247.1	-	0	515																											CACAGATcacacatacacacgcaa	0.510													4	2	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42244278	42244279	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr3:42244278_42244279insC	ENST00000449246.1	+	12	1857_1858	c.1556_1557insC	c.(1555-1557)cctfs	p.P519fs	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCTCTGTCCTCCTGGGGGACT	0.644													19	32	---	---	---	---					
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													2	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1																						ATTCCACTGTGAGAGGGCTCAT	0.396													2	4	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													4	8	---	---	---	---					
OR10G9	219870	broad.mit.edu	37	11	123893833	123893833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:123893833delG	ENST00000375024.1	+	1	114	c.114delG	c.(112-114)ctfs	p.L38fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTGCTGGGGAACCTCC	0.572													238	148	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909592	123909592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr11:123909592delC	ENST00000330487.5	-	1	125	c.117delG	c.(115-117)ggfs	p.G39fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAGGAGGTTCCCCAGCACAG	0.567													30	218	---	---	---	---					
MYH13	8735	broad.mit.edu	37	17	10213124	10213124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:10213124delG	ENST00000418404.3	-	33	4843	c.4680delC	c.(4678-4680)agfs	p.S1560fs	MYH13_ENST00000570743.1_Frame_Shift_Del_p.S1560fs|MYH13_ENST00000252172.4_Frame_Shift_Del_p.S1560fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1560					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCAAGATCTTGCTCTCCTCGT	0.488													5	3	---	---	---	---					
NOTUM	147111	broad.mit.edu	37	17	79916813	79916814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr17:79916813_79916814insA	ENST00000409678.3	-	4	913_914	c.530_531insT	c.(529-531)agtfs	p.S177fs		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	177						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCCCTTACACCATGTTTGCGTT	0.599													19	85	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	f913dee6-7139-469b-b458-bd84986e2295	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													6	10	---	---	---	---					
KIF1B	23095	broad.mit.edu	37	1	10364654	10364655	+	Frame_Shift_Ins	INS	-	-	AGAC			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:10364654_10364655insAGAC	ENST00000377093.4	+	21	3564_3565	c.3411_3412insAGAC	c.(3409-3414)aggacafs	p.T1138fs	KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1138fs|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGGATGAGGAGACAGTTCTC	0.480													34	189	---	---	---	---					
ATP8B2	57198	broad.mit.edu	37	1	154315767	154315767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:154315767delG	ENST00000368489.3	+	16	1731	c.1731delG	c.(1729-1731)atfs	p.M577fs		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	563					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAGCGGATGTCGGTCATAG	0.582													11	45	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237774123	237774124	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:237774123_237774124insC	ENST00000366574.2	+	36	5062_5063	c.4745_4746insC	c.(4744-4746)tccfs	p.S1582fs	RYR2_ENST00000542537.1_Frame_Shift_Ins_p.S1566fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.S1580fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1582	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			GTGCCGCAGTGCCCCCCGCGCC	0.530													10	116	---	---	---	---					
GALNT14	79623	broad.mit.edu	37	2	31155029	31155030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:31155029_31155030insC	ENST00000349752.5	-	10	1601_1602	c.962_963insG	c.(961-963)gagfs	p.E321fs	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Frame_Shift_Ins_p.E301fs|GALNT14_ENST00000356174.3_Frame_Shift_Ins_p.E288fs|GALNT14_ENST00000324589.5_Frame_Shift_Ins_p.E326fs|GALNT14_ENST00000420311.2_Frame_Shift_Ins_p.E286fs	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCTCTAGGCTGCCCCCGCACAT	0.550													7	1107	---	---	---	---					
GPR1	2825	broad.mit.edu	37	2	207041591	207041592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:207041591_207041592insA	ENST00000407325.2	-	3	742_743	c.380_381insT	c.(379-381)tctfs	p.S127fs	GPR1_ENST00000437420.1_Frame_Shift_Ins_p.S127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACACT	0.455													7	431	---	---	---	---					
CIDEC	63924	broad.mit.edu	37	3	9918830	9918830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:9918830delG	ENST00000336832.2	-	3	266	c.127delC	c.(127-129)ggfs	p.R43fs	CIDEC_ENST00000455015.1_Intron|CIDEC_ENST00000423850.1_Intron|CIDEC_ENST00000383817.1_Frame_Shift_Del_p.R43fs|CIDEC_ENST00000430427.1_Frame_Shift_Del_p.R43fs|CIDEC_ENST00000443115.1_Frame_Shift_Del_p.R43fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	43	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CGGCAGGGCCGGGCCCTGGGG	0.642													2	4	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130284165	130284166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:130284165_130284166insG	ENST00000358511.6	+	3	1020_1021	c.989_990insG	c.(988-990)cggfs	p.R330fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.R330fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	330	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGAATCAGGGGGTGCCCC	0.535													7	974	---	---	---	---					
RP11-285C1.2	0	broad.mit.edu	37	4	153983748	153983749	+	RNA	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr4:153983748_153983749insG	ENST00000515232.1	+	0	218																											gacagaggcacggggggaacac	0.545													2	4	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84930836	84930836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr6:84930836delT	ENST00000403245.3	-	3	225	c.111delA	c.(109-111)aafs	p.K37fs	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	37					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTTCATCTCTTTTTTAGATT	0.289													7	819	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													2	4	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1686)cttfs	p.L562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													9	269	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaaaggfs	p.R2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381													11	286	---	---	---	---					
OLMALINC	90271	broad.mit.edu	37	10	102141570	102141571	+	RNA	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:102141570_102141571insC	ENST00000454935.1	+	0	996_997																											GCTGCTCAATGCCCCCCGCTGc	0.589													2	4	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cctcccfs	p.P876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAGCTGGGAAGGGGGGCGCAG	0.609													7	310	---	---	---	---					
NXPE1	120400	broad.mit.edu	37	11	114401366	114401366	+	Translation_Start_Site	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:114401366delG	ENST00000251921.2	-	0	354				NXPE1_ENST00000536312.1_Frame_Shift_Del_p.L122fs|NXPE1_ENST00000424269.1_Frame_Shift_Del_p.L122fs	NM_152315.2	NP_689528.2			neurexophilin and PC-esterase domain family, member 1																		CTCACCTCCAGTAGGATGTCC	0.567													12	652	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													7	590	---	---	---	---					
OR10G9	219870	broad.mit.edu	37	11	123893833	123893833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:123893833delG	ENST00000375024.1	+	1	114	c.114delG	c.(112-114)ctfs	p.L38fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTGCTGGGGAACCTCC	0.572													633	419	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909592	123909592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:123909592delC	ENST00000330487.5	-	1	125	c.117delG	c.(115-117)ggfs	p.G39fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAGGAGGTTCCCCAGCACAG	0.567													61	318	---	---	---	---					
CALCOCO1	57658	broad.mit.edu	37	12	54115378	54115378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr12:54115378delC	ENST00000548263.1	-	6	679	c.631delG	c.(631-633)agfs	p.E211fs	CALCOCO1_ENST00000550804.1_Frame_Shift_Del_p.E211fs|CALCOCO1_ENST00000430117.2_Frame_Shift_Del_p.E178fs|CALCOCO1_ENST00000262059.4_Frame_Shift_Del_p.E211fs			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	211					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGTGATCTCCCCATGGGAC	0.527													7	1342	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)gggfs	p.G1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411													7	575	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81161713	81161713	+	RNA	DEL	A	A	-	rs113658800		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:81161713delA	ENST00000525539.1	-	0	6043				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAATCAAAATAATCTTAACAC	0.438													5	8	---	---	---	---					
MYH13	8735	broad.mit.edu	37	17	10213124	10213124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:10213124delG	ENST00000418404.3	-	33	4843	c.4680delC	c.(4678-4680)agfs	p.S1560fs	MYH13_ENST00000570743.1_Frame_Shift_Del_p.S1560fs|MYH13_ENST00000252172.4_Frame_Shift_Del_p.S1560fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1560					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCAAGATCTTGCTCTCCTCGT	0.488													21	8	---	---	---	---					
THRA	7067	broad.mit.edu	37	17	38243082	38243083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:38243082_38243083insA	ENST00000450525.2	+	7	1190_1191	c.699_700insA	c.(697-702)gcaaaafs	p.AK233fs	THRA_ENST00000264637.4_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000546243.1_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000394121.4_Frame_Shift_Ins_p.AK233fs|THRA_ENST00000584985.1_Frame_Shift_Ins_p.AK233fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	233	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGACTTTGCCAAAAAACTGCC	0.579											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	1058	---	---	---	---					
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1594-1599)gaccccfs	p.DP532fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	532	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.500													8	897	---	---	---	---					
KRT34	3885	broad.mit.edu	37	17	39538426	39538427	+	Frame_Shift_Ins	INS	-	-	G	rs148417834		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:39538426_39538427insG	ENST00000394001.1	-	1	228_229	c.198_199insC	c.(196-201)ccgctgfs	p.L67fs		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	67	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACGC	0.624													13	482	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40842838	40842839	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:40842838_40842839insG	ENST00000264638.4	+	13	2154_2155	c.1937_1938insG	c.(1936-1938)cggfs	p.R646fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	646	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.M641fs*96(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGGCCATTCCTGGGGGCTATCC	0.559													8	830	---	---	---	---					
HEXIM2	124790	broad.mit.edu	37	17	43246411	43246412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:43246411_43246412insC	ENST00000307275.3	+	4	532_533	c.96_97insC	c.(94-99)acccccfs	p.TP32fs	HEXIM2_ENST00000591576.1_Frame_Shift_Ins_p.TP32fs|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Frame_Shift_Ins_p.TP32fs	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	32					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCCCCCAAACACCCCCTGAGCG	0.609													7	426	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-144)atafs	p.I48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													9	104	---	---	---	---					
SH3BP1	23616	broad.mit.edu	37	22	38051313	38051314	+	Frame_Shift_Ins	INS	-	-	C	rs70950549		TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr22:38051313_38051314insC	ENST00000357436.4	+	18	2041_2042	c.1728_1729insC	c.(1726-1731)ccccccfs	p.PP576fs	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	576					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCACCATGCCGCCCCCCCAGGT	0.718													4	6	---	---	---	---					
GAB3	139716	broad.mit.edu	37	X	153940634	153940635	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01W-0928-08	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565abd67-4dc5-4083-9572-e44bed30199e	22ea2729-99b8-4a88-a94a-243711400a0e	g.chrX:153940634_153940635insG	ENST00000369575.3	-	4	966_967	c.935_936insC	c.(934-936)caafs	p.Q312fs	GAB3_ENST00000424127.2_Frame_Shift_Ins_p.Q313fs|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	312										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTGGCTTAGGGGGGCGGGG	0.495													10	408	---	---	---	---					
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1861-1866)ggtcttfs	p.L622fs	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599													8	89	---	---	---	---					
KIF1B	23095	broad.mit.edu	37	1	10364654	10364655	+	Frame_Shift_Ins	INS	-	-	AGAC			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:10364654_10364655insAGAC	ENST00000377093.4	+	21	3564_3565	c.3411_3412insAGAC	c.(3409-3414)aggacafs	p.T1138fs	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1138fs|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGGATGAGGAGACAGTTCTC	0.480													8	44	---	---	---	---					
LCE2D	353141	broad.mit.edu	37	1	152636779	152636780	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:152636779_152636780insG	ENST00000368784.1	+	2	253_254	c.198_199insG	c.(196-201)tcggggfs	p.SG66fs		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	66	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCAGCTCTGGGGGTGGTGG	0.668													10	307	---	---	---	---					
ATP8B2	57198	broad.mit.edu	37	1	154315767	154315767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr1:154315767delG	ENST00000368489.3	+	16	1731	c.1731delG	c.(1729-1731)atfs	p.M577fs		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	563					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAGCGGATGTCGGTCATAG	0.582													17	89	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233712227	233712229	+	In_Frame_Del	DEL	ACA	ACA	-	rs72096937		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr2:233712227_233712229delACA	ENST00000373566.3	+	28	3893_3895	c.3696_3698delACA	c.(3694-3699)ccg>cc	p.PQ1232del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.PQ1204del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.PQ1210del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.PQ1232del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.PQ1210del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.PQ1231del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1210	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		agcagctgccacagcagcagcag	0.547													9	17	---	---	---	---					
TRAK1	22906	broad.mit.edu	37	3	42244278	42244279	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr3:42244278_42244279insC	ENST00000449246.1	+	12	1857_1858	c.1556_1557insC	c.(1555-1557)cctfs	p.P519fs	TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000327628.5_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCTCTGTCCTCCTGGGGGACT	0.644													19	32	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													17	32	---	---	---	---					
OR10G9	219870	broad.mit.edu	37	11	123893833	123893833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:123893833delG	ENST00000375024.1	+	1	114	c.114delG	c.(112-114)ctfs	p.L38fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTGCTGGGGAACCTCC	0.572													238	148	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909592	123909592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr11:123909592delC	ENST00000330487.5	-	1	125	c.117delG	c.(115-117)ggfs	p.G39fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAGGAGGTTCCCCAGCACAG	0.567													30	218	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													10	278	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													3	6	---	---	---	---					
MYH13	8735	broad.mit.edu	37	17	10213124	10213124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:10213124delG	ENST00000418404.3	-	33	4843	c.4680delC	c.(4678-4680)agfs	p.S1560fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.S1560fs|MYH13_ENST00000570743.1_Frame_Shift_Del_p.S1560fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1560					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCAAGATCTTGCTCTCCTCGT	0.488													5	3	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213525	37213526	+	RNA	INS	-	-	TTTTG	rs59291335		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:37213525_37213526insTTTTG	ENST00000583447.1	+	0	141					NR_036551.1																						CTGAAGGACTCttttttttttt	0.550													18	27	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2865)cagfs	p.Q955fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													15	41	---	---	---	---					
NOTUM	147111	broad.mit.edu	37	17	79916813	79916814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr17:79916813_79916814insA	ENST00000409678.3	-	4	913_914	c.530_531insT	c.(529-531)agtfs	p.S177fs		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	177						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCCCTTACACCATGTTTGCGTT	0.599													19	85	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													6	10	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11061063	11061066	+	RNA	DEL	TGGC	TGGC	-	rs58899679		TCGA-55-1596-01A-01D-1040-01	TCGA-55-1596-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f9f0d3-2500-42e9-ae46-f6fabd818d73	22ea2729-99b8-4a88-a94a-243711400a0e	g.chr21:11061063_11061066delTGGC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtaggcatggtggctggcatgcac	0.515													4	3	---	---	---	---