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
CNTN4	152330	broad.mit.edu	37	3	2967357	2967357	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:2967357C>G	ENST00000397461.1	+	12	1636	c.1252C>G	c.(1252-1254)Ctt>Gtt	p.L418V	CNTN4_ENST00000418658.1_Missense_Mutation_p.L418V|CNTN4_ENST00000397459.2_Missense_Mutation_p.L90V|CNTN4_ENST00000427331.1_Missense_Mutation_p.L418V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.L199V|CNTN4_ENST00000448906.2_Missense_Mutation_p.L90V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	418	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGAGTAACTCTTGTCAAAGT	0.363000													17	123					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57749707	57749707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:57749707C>T	ENST00000261558.3	+	5	1550	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	AP5M1_ENST00000431972.2_Nonsense_Mutation_p.R396*|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	382	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TGAAGTATTTCGAGAGAAAAG	0.269000													21	193					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725892	11725892	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:11725892C>T	ENST00000381486.2	+	9	1320	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	GREB1_ENST00000381483.2_Silent_p.S340S|GREB1_ENST00000234142.5_Silent_p.S340S|GREB1_ENST00000263834.5_Silent_p.S340S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	340						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCTAGAGAGCGCAGGCATGT	0.537000													6	59					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690434	99690434	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:99690434C>A	ENST00000524871.1	+	4	505	c.215C>A	c.(214-216)gCa>gAa	p.A72E	CNTN5_ENST00000528682.1_Missense_Mutation_p.A72E|CNTN5_ENST00000527185.1_Missense_Mutation_p.A72E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.A72E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	72					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTAGGGGCAGCTCAGAAT	0.433000													7	68					0.0293803	0.0312332	1	1	0
FAT3	120114	broad.mit.edu	37	11	92615993	92615993	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:92615993G>T	ENST00000298047.6	+	23	12388	c.12371G>T	c.(12370-12372)tGc>tTc	p.C4124F	FAT3_ENST00000409404.2_Missense_Mutation_p.C4124F|FAT3_ENST00000533797.1_Missense_Mutation_p.C459F|FAT3_ENST00000525166.1_Missense_Mutation_p.C3974F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4124	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CTCTGCAACTGCACGCCGGGC	0.632000										TCGA Ovarian(4;0.039)			8	19					0.0381472	0.0401908	1	1	0
ZNF813	126017	broad.mit.edu	37	19	53994426	53994426	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:53994426C>G	ENST00000396403.4	+	4	1068	c.940C>G	c.(940-942)Ctt>Gtt	p.L314V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAATCAAACCTTAAAAGACA	0.398000													9	171					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													5	36					0	0	1	0	0
GADD45B	4616	broad.mit.edu	37	19	2477210	2477210	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:2477210C>T	ENST00000215631.4	+	3	562	c.330C>T	c.(328-330)ggC>ggT	p.G110G	GADD45B_ENST00000587345.1_Silent_p.G110G	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	110					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		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)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCAGGGCACCACCGAGG	0.672000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	43					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101531	168101531	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:168101531A>T	ENST00000409195.1	+	9	3718	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D988V|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1210V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1035					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						CAGTCCTTAGATTCTATAAGT	0.328000													19	48					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	rs1571234	by1000genomes	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	56				T -> A (in Ref. 1; BAC03629).	rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562000													6	51					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685464	31685464	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:31685464G>T	ENST00000375483.3	+	11	1440	c.1440G>T	c.(1438-1440)agG>agT	p.R480S		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	480						cytoplasm|extracellular region	lipid binding										TTATCATCAGGATCCAGGTGC	0.602000													9	179					0.0581538	0.0607269	1	1	0
AGPAT3	56894	broad.mit.edu	37	21	45389028	45389028	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr21:45389028G>T	ENST00000398063.2	+	4	870	c.378G>T	c.(376-378)ctG>ctT	p.L126L	AGPAT3_ENST00000398058.1_Silent_p.L126L|AGPAT3_ENST00000291572.8_Silent_p.L126L|AGPAT3_ENST00000327505.2_Silent_p.L126L|AGPAT3_ENST00000546158.1_Silent_p.L126L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Silent_p.L126L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	126					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGAAGGAGCTGCTCTACGTGC	0.627000													9	62					0.00448238	0.00485249	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596344	58596344	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:58596344G>A	ENST00000240727.6	-	7	1640	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	414					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGCCGCAGGCATAGGGCTT	0.726000													3	19					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312457	111312457	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:111312457C>G	ENST00000317012.4	-	2	1600	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	198							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCCTCCTTCTCAGCCCTCACC	0.532000													16	98					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													5	39					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51981894	51981894	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:51981894G>A	ENST00000417220.2	+	11	1903	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Missense_Mutation_p.R472Q|PARP3_ENST00000398755.3_Missense_Mutation_p.R479Q			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	472	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCATTGCCCGAGGCCACACC	0.607000													21	169					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37453402	37453402	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:37453402C>G	ENST00000264658.6	-	6	636	c.376G>C	c.(376-378)Ggg>Cgg	p.G126R	FBXL20_ENST00000583610.1_Missense_Mutation_p.G126R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G126R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	126						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTTGTACACCCATTTAGATTC	0.368000													5	50					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896752	52896752	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:52896752G>A	ENST00000371544.3	-	28	4903	c.4641C>T	c.(4639-4641)caC>caT	p.H1547H	ZCCHC11_ENST00000257177.4_Silent_p.H1548H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1547	Pro-rich.				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						AGTGTCCATCGTGAGACGTGT	0.512000													10	84					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678603	37678603	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:37678603C>T	ENST00000379800.3	-	1	1200	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	264	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCGCAGCCCACGACAGTAGTT	0.428000													11	127					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3140675	3140675	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:3140675C>T	ENST00000380375.3	+	7	1313	c.669C>T	c.(667-669)caC>caT	p.H223H	BPHL_ENST00000380379.5_Silent_p.H240H|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.H223H			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	240					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGATTGTGCACGGTGAGAAGG	0.572000													56	171					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113654	94113654	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:94113654G>A	ENST00000243673.2	-	4	1104	c.933C>T	c.(931-933)taC>taT	p.Y311Y	GPR83_ENST00000539203.2_Silent_p.Y269Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	311						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGGAGGACGTAGCAGTTGA	0.527000													25	95					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095194	167095194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:167095194G>T	ENST00000361200.2	+	6	992	c.826G>T	c.(826-828)Gag>Tag	p.E276*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E276*|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E276*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	276					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGCTCAATGAGAAGTTGAT	0.602000													12	68					0.00136819	0.00149488	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97852365	97852365	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:97852365G>T	ENST00000447648.2	-	21	3164	c.2865C>A	c.(2863-2865)ctC>ctA	p.L955L	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.L957L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	955						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACGGCCCAGAGGGCGATGC	0.677000													4	12					0.00909568	0.00975718	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36875084	36875084	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:36875084C>T	ENST00000301807.6	-	21	6105	c.4208G>A	c.(4207-4209)cGc>cAc	p.R1403H	TRANK1_ENST00000429976.2_Missense_Mutation_p.R1953H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1403H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1953					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACATTGAGGCGGGCGGCCCC	0.577000													5	37					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39545272	39545272	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:39545272C>T	ENST00000537403.1	-	4	1450	c.248G>A	c.(247-249)cGt>cAt	p.R83H	SEC23A_ENST00000536508.1_Missense_Mutation_p.R159H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R256H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R285H			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATCATGATACGAGCACCAGT	0.353000													6	55					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75331243	75331243	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr10:75331243C>T	ENST00000339859.4	-	3	276	c.176G>A	c.(175-177)cGt>cAt	p.R59H	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R59H|USP54_ENST00000319786.7_Missense_Mutation_p.R59H|USP54_ENST00000408019.1_Missense_Mutation_p.R59H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	59					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTAAAGCTACGTCGGAAGAT	0.363000													9	80					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377555	44377555	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:44377555A>G	ENST00000587539.1	-	3	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H	ZNF404_ENST00000324394.6_Missense_Mutation_p.Y269H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTACATTTGTAGGGTTTCACA	0.358000													16	75					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44065004	44065004	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:44065004G>A	ENST00000260645.1	-	2	373	c.234C>T	c.(232-234)agC>agT	p.S78S	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	78	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.S78R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGATCTGCCCGCTCTCCACGT	0.502000													17	85					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860095	67860095	+	Silent	SNP	T	T	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:67860095T>G	ENST00000388833.3	+	10	1400	c.1023T>G	c.(1021-1023)gcT>gcG	p.A341A	TSNAXIP1_ENST00000415766.3_Silent_p.A326A|TSNAXIP1_ENST00000561639.1_Silent_p.A395A	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	341					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGATGCTGGCTGAGGGCAAGA	0.637000													13	61					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													5	46					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206679	41206679	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chrX:41206679C>T	ENST00000399959.2	+	16	2739	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Silent_p.H612H|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	628	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gaggtggccacggtagcagca	0.512000										HNSCC(61;0.18)			22	100					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168013891	168013891	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:168013891G>A	ENST00000367840.3	+	15	2006	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	DCAF6_ENST00000432587.2_Missense_Mutation_p.E607K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E581K|DCAF6_ENST00000312263.6_Missense_Mutation_p.E561K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	584					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAACCCAGTTGAGAACCATAT	0.363000													19	78					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042397	5042397	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:5042397G>T	ENST00000304328.5	+	14	2909	c.48G>T	c.(46-48)ctG>ctT	p.L16L	USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Intron|USP6_ENST00000574788.1_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCCCTCTGGGATCAGCAG	0.662000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								4	36					1	1	1	1	0
REG1P	5969	broad.mit.edu	37	2	79365148	79365148	+	RNA	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:79365148C>A	ENST00000444841.1	-	0	110																											ATGAGTTGGTCTGAGCCATGC	0.498000													5	14					0.184627	0.186205	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80381703	80381703	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:80381703C>T	ENST00000265080.4	+	8	1311	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	415	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGAGTTTGCCAAATCAAAG	0.463000													19	65					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17341192	17341192	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:17341192G>T	ENST00000262545.2	+	4	727	c.412G>T	c.(412-414)Gct>Tct	p.A138S	PCSK2_ENST00000536609.1_Missense_Mutation_p.A103S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A119S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	138	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGGGCAAGCTGATGGCAC	0.428000													4	10					0.00024832	0.000279064	1	1	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			20	34					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2778131	2778131	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:2778131C>T	ENST00000399655.1	+	38	4921	c.4656C>T	c.(4654-4656)agC>agT	p.S1552S	CACNA1C_ENST00000347598.4_Silent_p.S1600S|CACNA1C_ENST00000399617.1_Silent_p.S1552S|CACNA1C_ENST00000399638.1_Silent_p.S1580S|CACNA1C_ENST00000399644.1_Silent_p.S1552S|CACNA1C_ENST00000406454.3_Silent_p.S1552S|CACNA1C_ENST00000399606.1_Silent_p.S1572S|CACNA1C_ENST00000402845.3_Silent_p.S1552S|CACNA1C_ENST00000399597.1_Silent_p.S1552S|CACNA1C_ENST00000399637.1_Silent_p.S1552S|CACNA1C_ENST00000399595.1_Silent_p.S1541S|CACNA1C_ENST00000335762.5_Silent_p.S1577S|CACNA1C_ENST00000399603.1_Silent_p.S1552S|CACNA1C_ENST00000399649.1_Silent_p.S1539S|CACNA1C_ENST00000399591.1_Silent_p.S1541S|CACNA1C_ENST00000327702.7_Silent_p.S1552S|CACNA1C_ENST00000344100.3_Silent_p.S1574S|CACNA1C_ENST00000399621.1_Silent_p.S1552S|CACNA1C_ENST00000399629.1_Silent_p.S1569S|CACNA1C_ENST00000399634.1_Silent_p.S1552S|CACNA1C_ENST00000399601.1_Silent_p.S1552S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.S1552S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1600					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTGAACAGCGACGGGACAG	0.592000													8	119					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584223	90584223	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:90584223C>G	ENST00000375883.3	-	6	972	c.666G>C	c.(664-666)aaG>aaC	p.K222N	CDK20_ENST00000605159.1_Missense_Mutation_p.K222N|CDK20_ENST00000325303.8_Missense_Mutation_p.K243N|CDK20_ENST00000375871.4_Missense_Mutation_p.R181T|CDK20_ENST00000336654.5_Missense_Mutation_p.K235N	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	243	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GCACCTGCTCCTTAAAGGAGA	0.582000													36	155					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9102000	9102000	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:9102000G>A	ENST00000383836.3	-	6	1143	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.A239V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	239					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)		GTCATTCCGGGCCTTTGTGCA	0.483000			T	RAF1	pilocytic astrocytoma								12	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469534	179469534	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:179469534G>T	ENST00000589042.1	-	281	54506	c.54282C>A	c.(54280-54282)ggC>ggA	p.G18094G	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G16453G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.G9029G|TTN_ENST00000342992.6_Silent_p.G15526G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.G9221G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G9154G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16453	Fibronectin type-III 31.		E -> A.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCACTGCCACCATTAT	0.453000													17	105					9.16793e-09	1.0711e-08	1	1	0
BAIAP3	8938	broad.mit.edu	37	16	1388940	1388940	+	Missense_Mutation	SNP	C	C	T	rs139609870		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:1388940C>T	ENST00000324385.5	+	3	432	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R57C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R57C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	92					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			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)				TGCCCACATGCGCCTCATGCT	0.657000													17	123					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043132	20043132	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:20043132C>T	ENST00000570682.1	-	2	1287	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGAGTTTGCCGGCGAGATCC	0.473000													8	162					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456283	123456283	+	Silent	SNP	C	C	T	rs41271441		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:123456283C>T	ENST00000360772.3	-	9	1074	c.696G>A	c.(694-696)acG>acA	p.T232T	MYLK_ENST00000346322.5_Silent_p.T232T|MYLK_ENST00000475616.1_Silent_p.T232T|MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T			Q15746	MYLK_HUMAN	myosin light chain kinase	232	Ig-like C2-type 2.				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)		CCACCAGGCACGTGTACACTC	0.567000													28	156					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022210	107022210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr10:107022210G>A	ENST00000369701.3	+	26	3792	c.3565G>A	c.(3565-3567)Gag>Aag	p.E1189K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1189						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACGGAGCCTGAGGAGCTGCT	0.532000													4	58					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360664	65360664	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:65360664G>A	ENST00000340313.4	-	3	959	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	246						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						ATGGCCAAGAGTCCTAGAAGC	0.627000													17	27					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157911	146157911	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr8:146157911A>G	ENST00000276816.4	-	4	448	c.262T>C	c.(262-264)Tca>Cca	p.S88P	ZNF16_ENST00000394909.2_Missense_Mutation_p.S88P	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTGTGATTCCAAATCT	0.428000													31	154					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64664467	64664467	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:64664467G>C	ENST00000543942.2	-	12	2238	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q378E	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	541										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTCACCACTTGTTTCACAATA	0.453000													17	50					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559260	1559260	+	Missense_Mutation	SNP	G	G	A	rs143134459		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:1559260G>A	ENST00000381605.4	-	2	221	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R52C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R53C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R53C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	53	Ig-like V-type.		R -> H (in dbSNP:rs2746603).		cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGCACAGCGCAGAGTGGCC	0.542000													35	129					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180278	65180278	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:65180278G>A	ENST00000310045.7	-	2	3071	c.1598C>T	c.(1597-1599)gCg>gTg	p.A533V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	523						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAGCCACTGCGCACATTCTCC	0.507000													16	76					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135263564	135263564	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:135263564C>T	ENST00000265605.2	-	3	493	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R142Q|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R142Q	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	142					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACCGGGGCCCGCACCGTGTA	0.582000													5	84					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2579489	2579489	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:2579489C>T	ENST00000302956.4	+	10	1339	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000413459.3_Silent_p.L415L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657000													29	115					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110813613	110813613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:110813613C>T	ENST00000375820.4	-	49	4687	c.4566G>A	c.(4564-4566)tgG>tgA	p.W1522*	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1522	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGTGGACAGCCAGTACGAGT	0.507000													6	58					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618705	141618705	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:141618705A>T	ENST00000548136.1	+	1	89	c.30A>T	c.(28-30)gaA>gaT	p.E10D	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTGCCACTGAATTTTATCTCC	0.373000													48	218					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267534	71267534	+	Missense_Mutation	SNP	G	G	A	rs148675299		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:71267534G>A	ENST00000554752.2	-	2	669	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R224C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R224C			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	224	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			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)		GGTCCTCCACGAGCAAACTCC	0.512000													25	102					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6677918	6677918	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:6677918A>G	ENST00000245907.6	-	41	5059	c.4967T>C	c.(4966-4968)aTg>aCg	p.M1656T	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1656	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAAGACAACCATGCTCTCGGT	0.557000													23	54					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47813190	47813190	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:47813190C>T	ENST00000285106.6	-	2	756	c.42G>A	c.(40-42)ggG>ggA	p.G14G	CXXC1_ENST00000589940.1_Silent_p.G14G|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000412036.2_Silent_p.G14G	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	14					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCTGTCCTCCCCGGCATCTG	0.607000													6	102					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809387	18809387	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:18809387G>A	ENST00000400664.1	+	1	1964	c.1912G>A	c.(1912-1914)Gtc>Atc	p.V638I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	638						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAATCTTCGTCACCGGCGG	0.711000													5	28					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262142	140262142	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:140262142G>A	ENST00000289272.2	+	1	289	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G97R	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGTGGGCGGAGCGC	0.567000													61	230					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42158136	42158136	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:42158136C>T	ENST00000225983.6	-	21	3048	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K	HDAC5_ENST00000393622.2_Missense_Mutation_p.E908K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E823K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E908K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	908	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGTACCTCTTCAGGAGCCCCA	0.602000													15	107					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													4	17					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294664	89294664	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:89294664C>T	ENST00000433976.2	+	6	2216	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.S586S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTTGCTTCCTCCTCACACC	0.493000													7	83					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73256457	73256457	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:73256457T>C	ENST00000297873.4	-	2	63	c.14A>G	c.(13-15)gAg>gGg	p.E5G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	5										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GCTCCCACCCTCCTCCTGGGC	0.677000													6	51					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								64	103					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49776611	49776611	+	Silent	SNP	T	T	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAATGTTTGTTGCCTTAAATC	0.358000													6	64					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161																											TGAAAGTGCAGTTTTTCTCTT	0.363000													3	24					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50188182	50188182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:50188182G>A	ENST00000532489.1	+	8	1015	c.509G>A	c.(508-510)tGg>tAg	p.W170*	PRMT1_ENST00000391851.4_Nonsense_Mutation_p.W198*|PRMT1_ENST00000454376.2_Nonsense_Mutation_p.W216*			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	197						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TCCCCAGGGTGGGAGAACGTG	0.642000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	61					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	58					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456266	48456266	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:48456266T>C	ENST00000358536.4	-	21	4420	c.4151A>G	c.(4150-4152)aAc>aGc	p.N1384S	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.N1201S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.N1384S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.N1201S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1384					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTCAGGGTTGAGTGGCTG	0.587000													19	77					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58608604	58608604	+	Missense_Mutation	SNP	C	C	T	rs150528737		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:58608604C>T	ENST00000317147.5	-	16	2220	c.1888G>A	c.(1888-1890)Gga>Aga	p.G630R	CNOT1_ENST00000441024.2_Missense_Mutation_p.G630R|CNOT1_ENST00000569240.1_Missense_Mutation_p.G630R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	630					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.G630R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGGGCAAGTCCGCCCAAAATA	0.438000													22	81					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172806	51172806	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:51172806C>T	ENST00000440970.1	-	2	3467	c.3036G>A	c.(3034-3036)ccG>ccA	p.P1012P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562000													16	56					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50342585	50342585	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:50342585G>T	ENST00000394697.2	+	17	2283	c.1943G>T	c.(1942-1944)tGc>tTc	p.C648F	ADCY7_ENST00000566433.2_Missense_Mutation_p.C648F|ADCY7_ENST00000538642.1_Missense_Mutation_p.C648F|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.C648F			P51828	ADCY7_HUMAN	adenylate cyclase 7	648					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAGAGGTGCTGCCCAGCTCGG	0.652000													21	82					4.35082e-09	5.13396e-09	1	1	0
PPL	5493	broad.mit.edu	37	16	4935253	4935253	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:4935253G>A	ENST00000345988.2	-	22	3492	c.3403C>T	c.(3403-3405)Cgc>Tgc	p.R1135C	PPL_ENST00000590782.2_Missense_Mutation_p.R1133C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1135					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCATATTGGCGGGTGAGATCG	0.617000													21	74					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75777732	75777732	+	Silent	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:75777732A>G	ENST00000376911.1	+	6	1392	c.510A>G	c.(508-510)tcA>tcG	p.S170S	ANXA1_ENST00000257497.6_Silent_p.S170S			P04083	ANXA1_HUMAN	annexin A1	170					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACATAACCTCAGACACATCTG	0.328000													5	43					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322503	4322503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:4322503C>A	ENST00000337872.4	+	8	1879	c.1758C>A	c.(1756-1758)tgC>tgA	p.C586*	ZBTB49_ENST00000538529.1_Nonsense_Mutation_p.C69*|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.C464*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C586*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGATGCACTGCAAAGCTGGTG	0.562000													6	56					2.0095e-06	2.28001e-06	1	1	0
SDAD1P1	157489	broad.mit.edu	37	8	26238246	26238246	+	RNA	SNP	G	G	A	rs3195624		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr8:26238246G>A	ENST00000519902.1	-	0	1702																											CTGTTGGTCCGTCATCCTCAG	0.418000													11	123					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468572	61468572	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:61468572G>A	ENST00000343916.3	+	30	1744	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	581	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGACCCCCTGGATACCGCGG	0.672000													19	153					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88580599	88580599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:88580599C>A	ENST00000339673.6	+	5	251	c.152C>A	c.(151-153)tCa>tAa	p.S51*	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	51					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGTGAGTCATCAGAAGGCAGT	0.348000													33	68					2.68265e-12	3.26343e-12	1	1	0
HES4	57801	broad.mit.edu	37	1	934936	934936	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:934936G>A	ENST00000428771.2	-	2	538	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	HES4_ENST00000304952.6_Silent_p.L88L|HES4_ENST00000484667.2_Silent_p.L56L	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	88	Orange.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTCCGCAGGTGTCTCACG	0.741000													5	40					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20130899	20130899	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:20130899G>A	ENST00000395530.2	+	3	2002	c.1794G>A	c.(1792-1794)aaG>aaA	p.K598K	SPECC1_ENST00000395525.3_Silent_p.K598K|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395522.2_Silent_p.K598K|SPECC1_ENST00000395529.3_Silent_p.K679K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.K679K|SPECC1_ENST00000395527.4_Silent_p.K679K|SPECC1_ENST00000536879.1_Silent_p.K19K|SPECC1_ENST00000584527.1_Silent_p.K97K	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	679						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGGCTGTCAAGTTACACAATA	0.463000													7	62					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46080809	46080809	+	Missense_Mutation	SNP	C	C	G	rs139279656	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:46080809C>G	ENST00000350030.3	+	10	1878	c.1791C>G	c.(1789-1791)aaC>aaG	p.N597K	NASP_ENST00000537798.1_Missense_Mutation_p.N533K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Missense_Mutation_p.N599K|NASP_ENST00000372052.4_Missense_Mutation_p.N231K|NASP_ENST00000351223.3_Missense_Mutation_p.N258K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	597	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATGGGTACAACTCTCAGTATG	0.507000													5	85					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091149	11091149	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:11091149C>T	ENST00000537503.1	-	1	713	c.658G>A	c.(658-660)Gga>Aga	p.G220R	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	220					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCGTCTCCGGATATTTTG	0.428000													8	98					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149525064	149525064	+	RNA	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:149525064G>A	ENST00000378016.2	+	0	14975							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCTTGGGCGTCCCCACCTG	0.667000													4	37					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167364	140167364	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:140167364C>T	ENST00000504120.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAACGGCGGGTGGG	0.672000													15	111					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159177	152159177	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chrX:152159177C>T	ENST00000439251.1	-	2	1404	c.966G>A	c.(964-966)atG>atA	p.M322I	PNMA5_ENST00000361887.5_Missense_Mutation_p.M322I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M322I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M322I	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	322					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGAGCTTCATTAACTCCA	0.557000													11	117					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203807531	203807531	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:203807531C>T	ENST00000320443.8	+	4	1190	c.147C>T	c.(145-147)atC>atT	p.I49I	CARF_ENST00000545253.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000402905.2_Silent_p.I49I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000428585.1_Intron|CARF_ENST00000456821.2_Silent_p.I37I|CARF_ENST00000444724.1_Silent_p.I49I|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000438828.2_Silent_p.I49I					calcium responsive transcription factor																		TTTTGCCCATCACTACTCGTG	0.413000													17	61					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323326	124323326	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:124323326G>T	ENST00000394339.2	+	2	920	c.580G>T	c.(580-582)Gct>Tct	p.A194S	SPRY1_ENST00000339241.1_Missense_Mutation_p.A194S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	194	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGAATGCACTGCTCCCAGGAC	0.507000													10	125					7.48243e-07	8.5721e-07	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46629806	46629806	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:46629806C>T	ENST00000470495.1	-	1	1478	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.A11T|HOXB3_ENST00000498678.1_Missense_Mutation_p.A11T|HOXB3_ENST00000476342.1_Missense_Mutation_p.A11T|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron			P14651	HXB3_HUMAN	homeobox B3	11					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGAGCAGCCGCGGCGTTGTCG	0.622000													12	42					0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	113979878	113979878	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:113979878C>T	ENST00000375430.4	-	7	1065	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	GRTP1_ENST00000326039.3_Missense_Mutation_p.G262E|GRTP1_ENST00000375431.4_Intron			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	0						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCACTGGTGCCCGTCCTGTGC	0.701000													6	14					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836833	4836833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:4836833G>C	ENST00000329125.5	+	2	1009	c.934G>C	c.(934-936)Gtc>Ctc	p.V312L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	312										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						AAGGACTGTGGTCAAGTTCCC	0.542000													18	182					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55192224	55192224	+	Silent	SNP	G	G	A	rs141877896	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:55192224G>A	ENST00000396834.1	+	9	1258	c.762G>A	c.(760-762)gcG>gcA	p.A254A	IL31RA_ENST00000447346.2_Silent_p.A273A|IL31RA_ENST00000396836.2_Silent_p.A273A|IL31RA_ENST00000354961.4_Silent_p.A254A|IL31RA_ENST00000297015.3_Silent_p.A131A|IL31RA_ENST00000490985.1_Silent_p.A131A|IL31RA_ENST00000359040.5_Silent_p.A273A	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	241	Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGCTGAGGCGGATGGAAGAA	0.527000													7	55					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200390	100200390	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:100200390G>A	ENST00000547776.2	-	4	460	c.461C>T	c.(460-462)cCg>cTg	p.P154L	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P154L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	154						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTAATTGTCGGGTCAGTGAG	0.438000													9	49					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938391	2938391	+	Silent	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:2938391C>A	ENST00000378404.2	+	1	346	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	47						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCCAGGCTCCCTCAGCAGAGG	0.607000													5	74					0.000602214	0.00067039	1	1	0
BPI	671	broad.mit.edu	37	20	36952427	36952427	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:36952427G>T	ENST00000262865.4	+	8	1013	c.924G>T	c.(922-924)aaG>aaT	p.K308N	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	308					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGGTCTTGAAGATGACCCTTA	0.542000													11	37					0.000673444	0.000742677	1	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													7	33	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													9	229	---	---	---	---					
LOC101928650	101928650	broad.mit.edu	37	1	170501106	170501107	+	RNA	DEL	GA	GA	-			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:170501106_170501107delGA	ENST00000421020.1	-	0	34_35				RP11-576I22.2_ENST00000456083.1_RNA																							GAGAAACAATGAGAGAGAGAGA	0.505													2	4	---	---	---	---					
KLHL12	59349	broad.mit.edu	37	1	202888952	202888953	+	Frame_Shift_Ins	INS	-	-	TGTG			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:202888952_202888953insTGTG	ENST00000367261.3	-	3	497_498	c.279_280insCACA	c.(277-282)acaaacfs	p.N94fs	KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.N132fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	94	BTB.				Wnt receptor signaling pathway		protein binding	p.E94K(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTACTGTTTCTGTGTACACAA	0.401													9	111	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)acafs	p.T211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663													9	165	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187524392	187524393	+	Frame_Shift_Ins	INS	-	-	TGTGT			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:187524392_187524393insTGTGT	ENST00000441802.2	-	19	11496_11497	c.11287_11288insACACA	c.(11287-11289)cacfs	p.-3762fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						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						TCTGGCTGTGCTGTGTGTTGAC	0.515										HNSCC(5;0.00058)			13	31	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38749052	38749053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:38749052_38749053insC	ENST00000359357.3	+	14	1765_1766	c.1511_1512insC	c.(1510-1512)gccfs	p.A504fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.A504fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.A721fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAGATGACCCCCCTCTTG	0.381													39	99	---	---	---	---					
PHIP	55023	broad.mit.edu	37	6	79657436	79657437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:79657436_79657437insA	ENST00000275034.4	-	36	4276_4277	c.4109_4110insT	c.(4108-4110)tgafs	p.*1370fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1370	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCCCAGCCTCTAAAGTTTCTCT	0.376													12	99	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													2	4	---	---	---	---					
IGHJ6	28475	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs2338628		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17																											AGACGTCCATGTAGTAGTAGTAG	0.537													7	141	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs71657822		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000564831.1	+	2	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)del	p.GTASGGEEA355del	APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													7	26	---	---	---	---					
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492099	34492099	+	RNA	DEL	G	G	-			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr22:34492099delG	ENST00000412218.1	+	0	114																											gtttTTTTTTGTTTTTGTTTT	0.363													4	6	---	---	---	---					
