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
PADI6	353238	broad.mit.edu	37	1	17721556	17721556	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:17721556G>C	uc001bak.1	+	13	1447	c.1447G>C	c.(1447-1449)GAG>CAG	p.E483Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	475					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCACGTGGATGAGTTCATGTG	0.552												
MYCL1	4610	broad.mit.edu	37	1	40366943	40366943	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:40366943G>A	uc001cer.1	-	2	381	c.164C>T	c.(163-165)GCC>GTC	p.A55V	MYCL1_uc001ces.1_Missense_Mutation_p.A55V|MYCL1_uc001cet.1_Missense_Mutation_p.A55V	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	55						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATCCCGGGGGCCGGGTCCCC	0.721			A		small cell lung 							
LPPR5	163404	broad.mit.edu	37	1	99470042	99470042	+	Silent	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:99470042G>C	uc001dsb.2	-	1	408	c.186C>G	c.(184-186)GCC>GCG	p.A62A	uc001dsd.1_RNA|LPPR5_uc001dsc.2_Silent_p.A62A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	62	Helical; (Potential).					integral to membrane	hydrolase activity				0						CGGGGGGCACGGCGCTGCTGT	0.697												
LOC200030	200030	broad.mit.edu	37	1	148016443	148016443	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:148016443C>A	uc001eqf.2	-	13	1854	c.1819G>T	c.(1819-1821)GTG>TTG	p.V607L	LOC200030_uc001eqe.2_Missense_Mutation_p.V158L|LOC200030_uc001eqg.2_Missense_Mutation_p.V158L|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqq.2_Missense_Mutation_p.V267L|NBPF14_uc001eqs.1_Missense_Mutation_p.V146L	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN	hypothetical protein LOC55672	607	NBPF 3.					cytoplasm					0						TCCTTTTTCACTTGATCCCAC	0.463												
RORC	6097	broad.mit.edu	37	1	151787828	151787828	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:151787828C>G	uc001ezh.2	-	5	480	c.372G>C	c.(370-372)CAG>CAC	p.Q124H	RORC_uc001ezg.2_Missense_Mutation_p.Q103H|RORC_uc010pdo.1_Missense_Mutation_p.Q178H|RORC_uc010pdp.1_Missense_Mutation_p.Q124H	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	124	Hinge (Potential).|Poly-Gln.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			gctgttgccgctgctgcagct	0.498												
RHBG	57127	broad.mit.edu	37	1	156351872	156351872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:156351872C>A	uc010pho.1	+	7	1030	c.992C>A	c.(991-993)TCA>TAA	p.S331*	RHBG_uc010phm.1_Missense_Mutation_p.Q164K|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Nonsense_Mutation_p.S262*|RHBG_uc009wrz.2_Nonsense_Mutation_p.S299*|RHBG_uc001for.2_Nonsense_Mutation_p.S301*	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	331	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					ATCCTTGAATCAAAATTCAAA	0.582												
GPR161	23432	broad.mit.edu	37	1	168066053	168066053	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:168066053G>C	uc001gfc.2	-	5	1106	c.792C>G	c.(790-792)AAC>AAG	p.N264K	GPR161_uc001gfb.2_Missense_Mutation_p.N132K|GPR161_uc010pll.1_Missense_Mutation_p.N174K|GPR161_uc010plm.1_Missense_Mutation_p.N150K|GPR161_uc009wvo.2_Missense_Mutation_p.N281K|GPR161_uc001gfd.2_Missense_Mutation_p.N264K|GPR161_uc010pln.1_Missense_Mutation_p.N284K|GPR161_uc001gfe.1_Missense_Mutation_p.N264K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	264	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					CTTTGCACTGGTTGGCCGAGT	0.607												
IGFN1	91156	broad.mit.edu	37	1	201193974	201193974	+	Silent	SNP	T	T	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:201193974T>G	uc001gwc.2	+	10	2710	c.1938T>G	c.(1936-1938)GTT>GTG	p.V646V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GGAAGGAGGTTGCCCACAGCT	0.607												
CD46	4179	broad.mit.edu	37	1	207933057	207933057	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:207933057C>T	uc001hgc.2	+	4	619	c.463C>T	c.(463-465)CCA>TCA	p.P155S	CD46_uc001hgd.2_Missense_Mutation_p.P155S|CD46_uc001hge.2_Missense_Mutation_p.P155S|CD46_uc001hgf.2_Missense_Mutation_p.P155S|CD46_uc001hgg.2_Missense_Mutation_p.P155S|CD46_uc001hgh.2_Missense_Mutation_p.P155S|CD46_uc001hgi.2_Missense_Mutation_p.P155S|CD46_uc001hgj.2_Missense_Mutation_p.P155S|CD46_uc001hgk.2_Missense_Mutation_p.P155S|CD46_uc001hgl.2_Missense_Mutation_p.P155S|CD46_uc001hgm.2_Missense_Mutation_p.P155S|CD46_uc001hgn.2_Missense_Mutation_p.P155S|CD46_uc001hgo.2_Missense_Mutation_p.P155S|CD46_uc001hgp.2_Missense_Mutation_p.P155S	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	155	Extracellular (Potential).|Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						CGGTAAGCCCCCAATATGTGA	0.214												
C10orf53	282966	broad.mit.edu	37	10	50916559	50916559	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:50916559G>A	uc001jid.1	+	3	430	c.370G>A	c.(370-372)GGA>AGA	p.G124R		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	Error:Variant_position_missing_in_Q8N6V4_after_alignment											0		all_neural(218;0.107)				ggcccagattggatcatgtat	0												
CDH23	64072	broad.mit.edu	37	10	73494045	73494045	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:73494045T>C	uc001jrx.3	+	32	4530	c.4153T>C	c.(4153-4155)TAT>CAT	p.Y1385H	C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.Y193H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1385	Cadherin 13.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGGCGACTTCTATACCTTGAC	0.622												
CD81	975	broad.mit.edu	37	11	2415369	2415369	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:2415369G>C	uc001lwf.1	+	3	459	c.226G>C	c.(226-228)GGC>CGC	p.G76R	CD81_uc001lwg.1_Missense_Mutation_p.G69R|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	76	Helical; (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATGTTCGTTGGCTTCCTGGG	0.662												
TRPM5	29850	broad.mit.edu	37	11	2436698	2436698	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:2436698A>C	uc001lwm.3	-	9	1141	c.1132T>G	c.(1132-1134)TGT>GGT	p.C378G	TRPM5_uc010qxl.1_Missense_Mutation_p.C378G|TRPM5_uc009ydn.2_Missense_Mutation_p.C380G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	378	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCAGGTCACAGGACTTGGCG	0.632												
OR4A15	81328	broad.mit.edu	37	11	55136271	55136271	+	Silent	SNP	T	T	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:55136271T>G	uc010rif.1	+	1	912	c.912T>G	c.(910-912)ACT>ACG	p.T304T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	304	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TAGTTCTAACTTTTATAACTC	0.383												
INTS5	80789	broad.mit.edu	37	11	62416240	62416240	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:62416240G>C	uc001nud.2	-	2	1365	c.1312C>G	c.(1312-1314)CTA>GTA	p.L438V	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	438					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AGCTGGATTAGCCGGTCACAA	0.637												
C11orf2	738	broad.mit.edu	37	11	64875938	64875938	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:64875938C>G	uc001ocr.1	+	5	1035	c.995C>G	c.(994-996)GCA>GGA	p.A332G	C11orf2_uc001ocs.1_Missense_Mutation_p.A208G	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	332					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CAGGGCCCAGCAGGTGCCGAG	0.692												
KLC2	64837	broad.mit.edu	37	11	66026228	66026228	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:66026228C>G	uc010rov.1	+	2	406	c.163C>G	c.(163-165)CAG>GAG	p.Q55E	KLC2_uc010row.1_Missense_Mutation_p.Q55E|KLC2_uc009yra.2_Missense_Mutation_p.Q55E|KLC2_uc001ohb.2_Missense_Mutation_p.Q55E|KLC2_uc010rox.1_Missense_Mutation_p.Q55E|KLC2_uc001ohc.2_Missense_Mutation_p.Q55E|KLC2_uc001ohd.2_Missense_Mutation_p.Q55E|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	55					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						GCCTGGCTCGCAGGAGCGCTG	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHOX2A	401	broad.mit.edu	37	11	71950893	71950893	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:71950893T>C	uc001osh.3	-	3	927	c.755A>G	c.(754-756)AAG>AGG	p.K252R		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	252					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGCCAAGCCTTAAGTAGTTC	0.731												
GPR83	10888	broad.mit.edu	37	11	94129639	94129639	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:94129639T>G	uc001pet.2	-	2	611	c.439A>C	c.(439-441)AGC>CGC	p.S147R		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	147	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAAGCGGCTGACATGGCAC	0.542												
HMBS	3145	broad.mit.edu	37	11	118963856	118963856	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:118963856G>A	uc001puz.1	+	14	1106	c.949G>A	c.(949-951)GGC>AGC	p.G317S	HMBS_uc001pvc.1_Missense_Mutation_p.G262S|HMBS_uc009zap.1_Missense_Mutation_p.G300S|HMBS_uc001pva.1_Missense_Mutation_p.G277S|HMBS_uc001pvb.1_Missense_Mutation_p.G286S|HMBS_uc001pvd.1_Missense_Mutation_p.G300S|HMBS_uc001pve.1_Missense_Mutation_p.G260S|HMBS_uc001pvf.1_Missense_Mutation_p.G300S	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	317					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ACAGTTGGTAGGCATCACTGC	0.502									Porphyria_Acute_Intermittent			
TEAD4	7004	broad.mit.edu	37	12	3126584	3126584	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:3126584G>C	uc010sej.1	+	6	649	c.372G>C	c.(370-372)AAG>AAC	p.K124N	TEAD4_uc010sek.1_Intron|TEAD4_uc001qln.2_5'UTR	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	125					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTAAGGACAAGGCCCTGCAGA	0.567												
CD163	9332	broad.mit.edu	37	12	7649454	7649454	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:7649454T>C	uc001qsz.3	-	5	1182	c.1054A>G	c.(1054-1056)AAG>GAG	p.K352E	CD163_uc001qta.3_Missense_Mutation_p.K352E|CD163_uc009zfw.2_Missense_Mutation_p.K352E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	352	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CAATAATGCTTTCCCCATTCA	0.353												
SLC2A3	6515	broad.mit.edu	37	12	8082432	8082432	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:8082432G>C	uc001qtr.2	-	6	971	c.709C>G	c.(709-711)CAA>GAA	p.Q237E	SLC2A3_uc001qts.2_3'UTR	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	237	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGGATGTCTTGGGATACATCC	0.483												
BIN2	51411	broad.mit.edu	37	12	51685395	51685396	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:51685395_51685396GG>TT	uc001ryg.2	-	10	1546_1547	c.1494_1495CC>AA	c.(1492-1497)TCCCCC>TCAACC	p.P499T	BIN2_uc009zlz.2_Missense_Mutation_p.P467T|BIN2_uc001ryh.2_Missense_Mutation_p.P375T|BIN2_uc010sng.1_Missense_Mutation_p.P473T	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	499						cytoplasm	protein binding			ovary(1)	1						ATTAAGGTGGGGGAAGTACAAA	0.317												
KRT84	3890	broad.mit.edu	37	12	52779341	52779341	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:52779341G>T	uc001sah.1	-	1	77	c.29C>A	c.(28-30)TCT>TAT	p.S10Y		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	10	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGGTGACCAGAGCTGACTCG	0.572												
C12orf50	160419	broad.mit.edu	37	12	88379779	88379779	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:88379779T>A	uc001tam.1	-	11	1142	c.974A>T	c.(973-975)AAA>ATA	p.K325I	C12orf50_uc001tan.2_Missense_Mutation_p.K340I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	325										skin(2)|ovary(1)	3						ATTTCGATTTTTATTATTGCG	0.483												
NBEA	26960	broad.mit.edu	37	13	35926334	35926334	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:35926334A>G	uc001uvb.2	+	38	6259	c.6053A>G	c.(6052-6054)GAA>GGA	p.E2018G	NBEA_uc010abi.2_Missense_Mutation_p.E674G	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2018						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAGAGGAAGAAAAGATGTGT	0.338												
NBEA	26960	broad.mit.edu	37	13	36229748	36229748	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:36229748G>C	uc001uvb.2	+	54	8367	c.8161G>C	c.(8161-8163)GAT>CAT	p.D2721H	NBEA_uc010abi.2_Missense_Mutation_p.D1377H|NBEA_uc010tef.1_Missense_Mutation_p.D514H|NBEA_uc001uvd.2_Missense_Mutation_p.D299H	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2721	WD 2.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGCCATTGGGATGTGGTCAC	0.463												
TBC1D4	9882	broad.mit.edu	37	13	76055892	76055892	+	Silent	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:76055892G>A	uc001vjl.1	-	1	359	c.12C>T	c.(10-12)CCC>CCT	p.P4P	TBC1D4_uc010aer.2_Silent_p.P4P|TBC1D4_uc010aes.2_Silent_p.P4P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	4						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAATGCAGCTGGGCGGCTCCA	0.731												
CUL4A	8451	broad.mit.edu	37	13	113887618	113887618	+	Silent	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:113887618T>C	uc010tjy.1	+	7	651	c.640T>C	c.(640-642)TTG>CTG	p.L214L	CUL4A_uc010tjx.1_Silent_p.L114L|CUL4A_uc010agu.2_Silent_p.L75L|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	214					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CCGGAGCCTGTTGCGGAGCCT	0.542												
FSCB	84075	broad.mit.edu	37	14	44974327	44974327	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr14:44974327C>A	uc001wvn.2	-	1	2173	c.1864G>T	c.(1864-1866)GTT>TTT	p.V622F		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	622	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGAGGCTGAACTTCAGCGGGG	0.632												
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr14:79433613G>A	uc001xun.2	+	10	2212	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R699H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	947	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423												
DLL4	54567	broad.mit.edu	37	15	41222285	41222285	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:41222285C>A	uc001zng.1	+	2	627	c.307C>A	c.(307-309)CTC>ATC	p.L103I		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	103	Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCGCAACCCTCTCCAACTGCC	0.682											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPTBN5	51332	broad.mit.edu	37	15	42159828	42159828	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:42159828T>G	uc001zos.2	-	35	6448	c.6115A>C	c.(6115-6117)ACC>CCC	p.T2039P	hsa-mir-4310|MI0015840_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2074	Spectrin 17.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AAGGCACTGGTTTTCAGGGAG	0.572												
ANKDD1A	348094	broad.mit.edu	37	15	65209596	65209596	+	Silent	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:65209596G>T	uc002aoa.2	+	3	179	c.150G>T	c.(148-150)GTG>GTT	p.V50V	ANKDD1A_uc002anx.1_Silent_p.V50V|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Silent_p.V20V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	50	ANK 2.				signal transduction					ovary(1)	1						TGGGCAGGGTGGCCCTGCACT	0.677												
IGDCC3	9543	broad.mit.edu	37	15	65623827	65623827	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:65623827A>G	uc002aos.2	-	8	1571	c.1319T>C	c.(1318-1320)GTG>GCG	p.V440A	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	440	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GGACACACGCACCTCAGTGGA	0.647												
CHRNB4	1143	broad.mit.edu	37	15	78927920	78927920	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:78927920C>T	uc002bed.1	-	2	177	c.65G>A	c.(64-66)CGC>CAC	p.R22H	CHRNB4_uc002bee.1_Missense_Mutation_p.R22H|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	22	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTGGCCACGCGGCAGTTCCC	0.587												
AGBL1	123624	broad.mit.edu	37	15	86838542	86838542	+	Silent	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:86838542A>G	uc002blz.1	+	16	2219	c.2139A>G	c.(2137-2139)CAA>CAG	p.Q713Q	AGBL1_uc002bma.1_Silent_p.Q444Q|AGBL1_uc002bmb.1_Silent_p.Q407Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	713					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACTTCCGGCAAGATGTTCTCT	0.483												
WDR90	197335	broad.mit.edu	37	16	708999	708999	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:708999C>A	uc002cii.1	+	24	3053	c.2999C>A	c.(2998-3000)GCC>GAC	p.A1000D	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A527D|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.A174D|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1000	WD 11.									ovary(1)	1		Hepatocellular(780;0.0218)				GATGTCCTGGCCCCTACTGAG	0.637												
ZNF423	23090	broad.mit.edu	37	16	49670809	49670809	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:49670809A>G	uc002efs.2	-	5	2552	c.2254T>C	c.(2254-2256)TGC>CGC	p.C752R	ZNF423_uc010vgn.1_Missense_Mutation_p.C635R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	752	C2H2-type 18.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAGGCCGTGCAGCGGTACATC	0.587												
NFAT5	10725	broad.mit.edu	37	16	69727070	69727070	+	Silent	SNP	A	A	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:69727070A>C	uc002exm.1	+	12	4496	c.3288A>C	c.(3286-3288)CCA>CCC	p.P1096P	NFAT5_uc002exi.2_Silent_p.P1020P|NFAT5_uc002exj.1_Silent_p.P1020P|NFAT5_uc002exk.1_Silent_p.P1020P|NFAT5_uc002exl.1_Silent_p.P1114P|NFAT5_uc002exn.1_Silent_p.P1113P|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1096					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATAGTCCAAATCCTATTG	0.438												
ITGAE	3682	broad.mit.edu	37	17	3657208	3657208	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:3657208C>T	uc002fwo.3	-	13	1495	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	466	FG-GAP 4.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCAGCACGGCCACAGCGTAA	0.632												
MYO15A	51168	broad.mit.edu	37	17	18022229	18022229	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:18022229G>A	uc010vxh.1	+	2	453	c.115G>A	c.(115-117)GGC>AGC	p.G39S		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	39	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCTGTTCATGGGCTTCCGCGA	0.458												
DHX8	1659	broad.mit.edu	37	17	41598738	41598738	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:41598738A>G	uc002idu.1	+	21	3141	c.3068A>G	c.(3067-3069)GAT>GGT	p.D1023G	DHX8_uc010wig.1_Missense_Mutation_p.D1023G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1023						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCTTGGCAGGATAAACAAGCC	0.493												
TMUB2	79089	broad.mit.edu	37	17	42268059	42268059	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:42268059A>T	uc002ifo.2	+	4	950	c.793A>T	c.(793-795)AGC>TGC	p.S265C	TMUB2_uc002ifp.2_Missense_Mutation_p.S245C|TMUB2_uc010wiu.1_Missense_Mutation_p.S208C|TMUB2_uc002ifq.2_Missense_Mutation_p.S265C|TMUB2_uc002ifr.2_3'UTR|TMUB2_uc002ifs.2_Missense_Mutation_p.S96C|TMUB2_uc002ift.2_Missense_Mutation_p.S245C|TMUB2_uc002ifu.2_3'UTR|TMUB2_uc002ifv.2_Missense_Mutation_p.S245C|TMUB2_uc002ifx.2_3'UTR|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	265				S -> R (in Ref. 5; CAD38755).		integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGAGCCACCCAGCCTTGGTGT	0.587												
MFSD11	79157	broad.mit.edu	37	17	74740462	74740462	+	Silent	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:74740462T>A	uc002jta.2	+	8	1528	c.555T>A	c.(553-555)GTT>GTA	p.V185V	MFSD11_uc002jtb.2_Silent_p.V185V|MFSD11_uc010dha.2_Silent_p.V133V|MFSD11_uc002jtc.2_Silent_p.V185V|MFSD11_uc002jtd.3_Silent_p.V185V|MFSD11_uc010dhb.2_Silent_p.V133V|MFSD11_uc002jte.2_Silent_p.V185V	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	185	Helical; (Potential).					integral to membrane				ovary(1)	1						TGGGGACAGTTCTATTCTTTC	0.418												
CDH2	1000	broad.mit.edu	37	18	25582961	25582961	+	Silent	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr18:25582961T>C	uc002kwg.2	-	7	1479	c.1020A>G	c.(1018-1020)GAA>GAG	p.E340E	CDH2_uc010xbn.1_Silent_p.E309E	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	340	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						GTTGGCTTACTTCTCGATCAA	0.398												
PTBP1	5725	broad.mit.edu	37	19	799436	799436	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:799436G>C	uc002lpr.2	+	2	138	c.32G>C	c.(31-33)GGT>GCT	p.G11A	PTBP1_uc002lpp.2_Missense_Mutation_p.G11A|PTBP1_uc002lpq.2_Missense_Mutation_p.G11A|PTBP1_uc002lps.2_Missense_Mutation_p.G11A|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_5'UTR	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	11					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATAGCCGTTGGTACAAAGGTA	0.597											OREG0025110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAJB1	3337	broad.mit.edu	37	19	14629110	14629110	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:14629110C>T	uc002myz.1	-	1	92	c.52G>A	c.(52-54)GAG>AAG	p.E18K	DNAJB1_uc010xnr.1_Intron	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	18	J.				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		TTGATCTCCTCGTCCGACGCG	0.701												
COPE	11316	broad.mit.edu	37	19	19030124	19030124	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:19030124C>T	uc002nkk.2	-	1	76	c.34G>A	c.(34-36)GGC>AGC	p.G12S	COPE_uc002nkl.2_Missense_Mutation_p.G12S|COPE_uc002nkm.2_Missense_Mutation_p.G12S|COPE_uc002nkn.2_Missense_Mutation_p.G12S|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkq.1_5'Flank|DDX49_uc002nkr.1_5'Flank|DDX49_uc002nks.1_5'Flank|DDX49_uc002nkt.1_5'Flank	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	12					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity				0						TCCCCGGAGCCGCCGGAGGCC	0.647												
ZNF682	91120	broad.mit.edu	37	19	20117898	20117898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:20117898G>C	uc002noq.2	-	4	536	c.413C>G	c.(412-414)TCA>TGA	p.S138*	ZNF682_uc002noo.2_Nonsense_Mutation_p.S106*|ZNF682_uc002nop.2_Nonsense_Mutation_p.S106*|ZNF682_uc010eck.2_Nonsense_Mutation_p.S62*	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AGGTAGAGTTGACAAACATTG	0.323												
ZNF536	9745	broad.mit.edu	37	19	30935410	30935410	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:30935410A>G	uc002nsu.1	+	2	1079	c.941A>G	c.(940-942)GAG>GGG	p.E314G	ZNF536_uc010edd.1_Missense_Mutation_p.E314G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	314	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CAGGAGGAGGAGCTCATCAGC	0.652												
RYR1	6261	broad.mit.edu	37	19	39063921	39063921	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:39063921G>C	uc002oit.2	+	96	14233	c.14103G>C	c.(14101-14103)CAG>CAC	p.Q4701H	RYR1_uc002oiu.2_Missense_Mutation_p.Q4696H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4701					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAAGGGGCAGTGGGACCGAC	0.632												
NR4A2	4929	broad.mit.edu	37	2	157186462	157186462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:157186462G>T	uc002tyz.3	-	3	659	c.237C>A	c.(235-237)TAC>TAA	p.Y79*	NR4A2_uc002tyx.3_Nonsense_Mutation_p.Y16*|NR4A2_uc010zcf.1_Nonsense_Mutation_p.Y79*|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	79					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GGGGCATTTGGTACAAGCAAG	0.527												
DLX1	1745	broad.mit.edu	37	2	172950706	172950706	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:172950706C>G	uc002uhl.2	+	1	499	c.301C>G	c.(301-303)CTG>GTG	p.L101V	DLX1_uc010fqj.1_Missense_Mutation_p.L101V|DLX1_uc002uhm.2_Missense_Mutation_p.L101V	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCAGAGCCGCCTGGAGGACCC	0.433												
TTLL4	9654	broad.mit.edu	37	2	219617528	219617528	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:219617528G>T	uc002viy.2	+	17	3389	c.3019G>T	c.(3019-3021)GTT>TTT	p.V1007F	TTLL4_uc010zkl.1_Missense_Mutation_p.V842F|TTLL4_uc010fvx.2_Missense_Mutation_p.V943F|TTLL4_uc010zkm.1_Missense_Mutation_p.V210F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1007					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACCAGATGATGTTCGGATTCT	0.478												
RSPO4	343637	broad.mit.edu	37	20	947920	947920	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr20:947920G>T	uc002wej.2	-	3	403	c.306C>A	c.(304-306)GAC>GAA	p.D102E	RSPO4_uc002wek.2_Missense_Mutation_p.D102E	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	102	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						GGATGCAGAAGTCCTGGCTGA	0.602												
SFRS15	57466	broad.mit.edu	37	21	33064675	33064675	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr21:33064675A>G	uc002ypd.2	-	13	2027	c.1601T>C	c.(1600-1602)ATT>ACT	p.I534T	SFRS15_uc002ype.2_Missense_Mutation_p.I534T|SFRS15_uc010glu.2_Missense_Mutation_p.I519T|SFRS15_uc002ypf.1_Missense_Mutation_p.I208T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	534	RRM.					nucleus	nucleotide binding|RNA binding				0						AATTGATTCAATTGGACCAAA	0.264												
VPREB1	7441	broad.mit.edu	37	22	22599522	22599522	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr22:22599522T>A	uc002zvx.1	+	2	237	c.211T>A	c.(211-213)TAT>AAT	p.Y71N	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	71	Complementarity-determining-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CCTGCTGAGATATTTCTCACA	0.587												
C22orf23	84645	broad.mit.edu	37	22	38343297	38343297	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr22:38343297G>C	uc003auj.1	-	4	431	c.340C>G	c.(340-342)CAA>GAA	p.Q114E	C22orf23_uc003auk.1_Missense_Mutation_p.Q114E	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	114											0	Melanoma(58;0.045)					CTGGTGGCTTGAGGCTTGAAC	0.637												
SETD5	55209	broad.mit.edu	37	3	9512248	9512248	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:9512248C>G	uc003brt.2	+	19	3265	c.2830C>G	c.(2830-2832)CTG>GTG	p.L944V	SETD5_uc003bru.2_Missense_Mutation_p.L846V|SETD5_uc003brv.2_Missense_Mutation_p.L833V|SETD5_uc010hck.2_Missense_Mutation_p.L426V|SETD5_uc003brx.2_Missense_Mutation_p.L613V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	944										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCATTCTGACCTGGCTCCTCA	0.507												
MTMR14	64419	broad.mit.edu	37	3	9712789	9712789	+	Silent	SNP	A	A	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:9712789A>C	uc003brz.2	+	6	736	c.612A>C	c.(610-612)CGA>CGC	p.R204R	MTMR14_uc003bsa.2_Silent_p.R204R|MTMR14_uc003bsb.2_Silent_p.R204R|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	204						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					AGCTGCTTCGATACCTGTCAG	0.453												
TSEN2	80746	broad.mit.edu	37	3	12538034	12538034	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:12538034C>T	uc003bxc.2	+	4	676	c.289C>T	c.(289-291)CCT>TCT	p.P97S	TSEN2_uc003bwy.2_Missense_Mutation_p.P97S|TSEN2_uc003bwz.2_Missense_Mutation_p.P97S|TSEN2_uc003bxa.2_Missense_Mutation_p.P97S|TSEN2_uc011auq.1_Missense_Mutation_p.P97S|TSEN2_uc003bxb.2_Missense_Mutation_p.P97S|TSEN2_uc011aur.1_Missense_Mutation_p.P6S	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	97					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						GACAAACATGCCTATCATCAC	0.358												
TSEN2	80746	broad.mit.edu	37	3	12560614	12560614	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:12560614C>G	uc003bxc.2	+	8	1404	c.1017C>G	c.(1015-1017)TTC>TTG	p.F339L	TSEN2_uc003bwy.2_Missense_Mutation_p.F339L|TSEN2_uc003bwz.2_Missense_Mutation_p.F280L|TSEN2_uc003bxa.2_Missense_Mutation_p.F313L|TSEN2_uc011auq.1_Missense_Mutation_p.F313L|TSEN2_uc003bxb.2_Missense_Mutation_p.F339L|TSEN2_uc011aur.1_Missense_Mutation_p.F248L	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	339					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						AGCCCACGTTCAGAACCACCT	0.428												
ITIH4	3700	broad.mit.edu	37	3	52863229	52863229	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:52863229C>T	uc003dfz.2	-	2	193	c.157G>A	c.(157-159)GTC>ATC	p.V53I	ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Missense_Mutation_p.V53I|ITIH4_uc011ben.1_Missense_Mutation_p.V53I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	53	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGGCTGGTGACGACCGTGTGG	0.557												
EPHA6	285220	broad.mit.edu	37	3	97356865	97356865	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:97356865T>G	uc010how.1	+	14	2766	c.2723T>G	c.(2722-2724)GTT>GGT	p.V908G	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.V300G|EPHA6_uc003drr.3_Missense_Mutation_p.V300G|EPHA6_uc003drt.2_Missense_Mutation_p.V300G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	813	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTATGCAAAGTTTCTGATTTT	0.403												
ZBTB11	27107	broad.mit.edu	37	3	101383530	101383530	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:101383530T>C	uc003dve.3	-	5	1882	c.1652A>G	c.(1651-1653)AAA>AGA	p.K551R		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTTCATCTTTTTTCCTCTTTG	0.343												
MYH15	22989	broad.mit.edu	37	3	108147527	108147527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:108147527C>A	uc003dxa.1	-	28	3631	c.3574G>T	c.(3574-3576)GAG>TAG	p.E1192*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1192	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AGAGTGGCCTCTTCCATGTCT	0.498												
CP	1356	broad.mit.edu	37	3	148904424	148904424	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:148904424C>T	uc003ewy.3	-	11	2213	c.1960G>A	c.(1960-1962)GAT>AAT	p.D654N	CP_uc011bnr.1_Intron|CP_uc003ewx.3_Missense_Mutation_p.D435N|CP_uc003ewz.2_Missense_Mutation_p.D654N|CP_uc010hvf.1_Missense_Mutation_p.D380N	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	654	Plastocyanin-like 4.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATGTACATCGGCCTCATTT	0.468												
PLD1	5337	broad.mit.edu	37	3	171451290	171451291	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:171451290_171451291CC>AA	uc003fhs.2	-	6	665_666	c.549_550GG>TT	c.(547-552)CTGGAA>CTTTAA	p.E184*	PLD1_uc003fht.2_Nonsense_Mutation_p.E184*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	184	PX.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAGTAATCTTCCAGTTGTTTCT	0.282												
ATP13A5	344905	broad.mit.edu	37	3	193002749	193002749	+	Silent	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:193002749G>A	uc011bsq.1	-	27	3180	c.3180C>T	c.(3178-3180)TTC>TTT	p.F1060F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1060	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAAAAGATGAATGCTACTG	0.368												
DOK7	285489	broad.mit.edu	37	4	3478203	3478203	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:3478203G>T	uc003ghd.2	+	4	536	c.466G>T	c.(466-468)GAC>TAC	p.D156Y	DOK7_uc003ghe.2_Silent_p.L21L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	156	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAAGCTGTCTGACCTCCGGCG	0.632												
SEL1L3	23231	broad.mit.edu	37	4	25780794	25780794	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:25780794G>C	uc003gru.3	-	16	2641	c.2489C>G	c.(2488-2490)GCG>GGG	p.A830G	SEL1L3_uc003grv.2_Missense_Mutation_p.A237G	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	830	Sel1-like 6.					integral to membrane	binding				0						TCCACCTTGCGCAGCCTTATG	0.468												
PPAT	5471	broad.mit.edu	37	4	57272680	57272680	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:57272680G>C	uc003hbr.2	-	3	585	c.383C>G	c.(382-384)GCT>GGT	p.A128G		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	128	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TAATCGAGCAGCATTTACCAA	0.378												
C4orf35	85438	broad.mit.edu	37	4	71200843	71200843	+	Silent	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:71200843G>T	uc003hff.2	+	1	173	c.87G>T	c.(85-87)GGG>GGT	p.G29G		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	29						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TTTTCTTTGGGGCTGACAATG	0.408												
PCDH10	57575	broad.mit.edu	37	4	134076151	134076151	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:134076151G>A	uc003iha.2	+	3	3596	c.2770G>A	c.(2770-2772)GAT>AAT	p.D924N		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	924	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TAGTGATCATGATGCCACCAA	0.408												
CTSO	1519	broad.mit.edu	37	4	156860571	156860571	+	Silent	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:156860571A>G	uc003ipg.2	-	4	553	c.504T>C	c.(502-504)TAT>TAC	p.Y168Y		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	168					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CATTGCAGCCATAATTATTAT	0.433												
FAT1	2195	broad.mit.edu	37	4	187527258	187527258	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:187527258A>G	uc003izf.2	-	17	10504	c.10316T>C	c.(10315-10317)GTC>GCC	p.V3439A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3439	Extracellular (Potential).|Cadherin 31.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGGAGAAGACGGGCGCGTT	0.522										HNSCC(5;0.00058)		
PRLR	5618	broad.mit.edu	37	5	35065837	35065837	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:35065837G>A	uc003jjm.2	-	10	1753	c.1223C>T	c.(1222-1224)GCT>GTT	p.A408V	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A307V	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	408	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGATCCACCAGCATGAAAATA	0.498												
PCDHGB1	56104	broad.mit.edu	37	5	140731513	140731513	+	Silent	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:140731513G>A	uc003ljo.1	+	1	1686	c.1686G>A	c.(1684-1686)GCG>GCA	p.A562A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.A562A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	562	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCCCGCGCTGGGGCCTG	0.692												
CSF1R	1436	broad.mit.edu	37	5	149459897	149459897	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:149459897G>T	uc003lrl.2	-	3	505	c.310C>A	c.(310-312)CCT>ACT	p.P104T	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P104T|CSF1R_uc011dce.1_Missense_Mutation_p.P104T|CSF1R_uc011dcf.1_Missense_Mutation_p.P104T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	104	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCCGGGCAGGGTCTAGAGTA	0.607												
CDHR2	54825	broad.mit.edu	37	5	176016062	176016062	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:176016062G>A	uc003mem.1	+	22	2953	c.2887G>A	c.(2887-2889)GTC>ATC	p.V963I	CDHR2_uc003men.1_Missense_Mutation_p.V963I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	963	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GAACAATGGCGTCATCCTGTT	0.587												
RASGEF1C	255426	broad.mit.edu	37	5	179545650	179545650	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:179545650C>T	uc003mlq.2	-	9	1339	c.1042G>A	c.(1042-1044)GCG>ACG	p.A348T	RASGEF1C_uc003mlr.2_Missense_Mutation_p.A348T|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A197T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTGGGCCGCCCCGCGCAGG	0.667												
LPA	4018	broad.mit.edu	37	6	160963737	160963737	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr6:160963737T>A	uc003qtl.2	-	35	5622	c.5502A>T	c.(5500-5502)CAA>CAT	p.Q1834H		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4342	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGAGACTGACTTGCCAGGGCC	0.507												
SP4	6671	broad.mit.edu	37	7	21550647	21550647	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:21550647G>C	uc003sva.2	+	6	2296	c.2115G>C	c.(2113-2115)AAG>AAC	p.K705N	SP4_uc003svb.2_Missense_Mutation_p.K392N	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	705					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TAGGTGAAAAGAGATTTGAAT	0.358												
CCDC129	223075	broad.mit.edu	37	7	31682578	31682578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:31682578G>T	uc003tcj.1	+	11	2587	c.1594G>T	c.(1594-1596)GAA>TAA	p.E532*	CCDC129_uc011kad.1_Nonsense_Mutation_p.E542*|CCDC129_uc003tci.1_Nonsense_Mutation_p.E383*|CCDC129_uc011kae.1_Nonsense_Mutation_p.E558*|CCDC129_uc003tck.1_Nonsense_Mutation_p.E440*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	532											0						CACGAGGGGAGAATGCCCAAG	0.542												
SEPT14	346288	broad.mit.edu	37	7	55910721	55910721	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:55910721C>T	uc003tqz.2	-	5	589	c.472G>A	c.(472-474)GTC>ATC	p.V158I		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	158					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACACGTGGACGCGAGAATCA	0.393												
GRM3	2913	broad.mit.edu	37	7	86416131	86416131	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:86416131C>A	uc003uid.2	+	3	2122	c.1023C>A	c.(1021-1023)AAC>AAA	p.N341K	GRM3_uc010lef.2_Missense_Mutation_p.N339K|GRM3_uc010leg.2_Missense_Mutation_p.N213K|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	341	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGCCTCAACCCCTACAACA	0.612												
CUL1	8454	broad.mit.edu	37	7	148497615	148497615	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:148497615G>C	uc010lpg.2	+	22	2798	c.2272G>C	c.(2272-2274)GAG>CAG	p.E758Q	CUL1_uc003wey.2_Missense_Mutation_p.E758Q|CUL1_uc003wez.2_Missense_Mutation_p.E648Q|CUL1_uc003wfa.2_Missense_Mutation_p.E419Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	758					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATTCTAATTGAGAAAGAATA	0.408												
GIMAP6	474344	broad.mit.edu	37	7	150325594	150325594	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:150325594C>G	uc003whn.2	-	3	516	c.92G>C	c.(91-93)AGG>ACG	p.R31T	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	31							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTTCTCCCTTAGACCTAG	0.532												
TMEM71	137835	broad.mit.edu	37	8	133764031	133764031	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:133764031C>A	uc003ytp.2	-	4	543	c.314G>T	c.(313-315)AGG>ATG	p.R105M	TMEM71_uc003ytn.2_Missense_Mutation_p.S105I|TMEM71_uc003yto.2_Missense_Mutation_p.R105M	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	105						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTCTGCTTACCTAACTAAGTT	0.318												
PHF20L1	51105	broad.mit.edu	37	8	133844573	133844573	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:133844573G>A	uc003ytt.2	+	15	2163	c.1838G>A	c.(1837-1839)AGC>AAC	p.S613N	PHF20L1_uc011lja.1_Missense_Mutation_p.S587N	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	613							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTTCACGAAGCATGTTTACG	0.423												
ZNF696	79943	broad.mit.edu	37	8	144378436	144378436	+	Silent	SNP	C	C	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:144378436C>T	uc003yxy.3	+	3	1000	c.591C>T	c.(589-591)CTC>CTT	p.L197L		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	197	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCAACCTCCTCCGGCACCAGC	0.731												
LRRC14	9684	broad.mit.edu	37	8	145746159	145746159	+	Silent	SNP	C	C	G			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:145746159C>G	uc003zdk.1	+	3	1013	c.867C>G	c.(865-867)CTC>CTG	p.L289L	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.L289L|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	289	LRR 1.										0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCGTGAGCTCAGCATGGGCT	0.632												
KANK1	23189	broad.mit.edu	37	9	711323	711323	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:711323G>A	uc003zgl.1	+	7	1206	c.557G>A	c.(556-558)AGT>AAT	p.S186N	KANK1_uc003zgm.2_Missense_Mutation_p.S186N|KANK1_uc003zgn.1_Missense_Mutation_p.S186N|KANK1_uc003zgo.1_Missense_Mutation_p.S186N|KANK1_uc003zgp.1_Missense_Mutation_p.S186N|KANK1_uc003zgq.2_Missense_Mutation_p.S28N|KANK1_uc003zgr.1_Missense_Mutation_p.S28N|KANK1_uc003zgs.1_Missense_Mutation_p.S28N	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	186					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGGCTGGCCAGTTTTGGAGGC	0.542												
ELAVL2	1993	broad.mit.edu	37	9	23701496	23701496	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:23701496G>C	uc003zpu.2	-	5	869	c.594C>G	c.(592-594)ATC>ATG	p.I198M	ELAVL2_uc003zps.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpt.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpv.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpw.2_Missense_Mutation_p.I198M	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	198	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACTTTACAGTGATTGGCTCCG	0.488												
PRUNE2	158471	broad.mit.edu	37	9	79323163	79323163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:79323163C>A	uc010mpk.2	-	8	4151	c.4027G>T	c.(4027-4029)GAG>TAG	p.E1343*		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1343					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GCGATCACCTCCTCTTCATCA	0.512												
OR1L3	26735	broad.mit.edu	37	9	125438067	125438067	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:125438067G>A	uc011lzb.1	+	1	659	c.659G>A	c.(658-660)AGA>AAA	p.R220K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTTATCTAAGAATTCTCATC	0.478												
LHX3	8022	broad.mit.edu	37	9	139092519	139092519	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:139092519T>A	uc004cha.2	-	2	257	c.160A>T	c.(160-162)AAG>TAG	p.K54*	LHX3_uc004cgz.2_Nonsense_Mutation_p.K59*	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	54	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TTGAGACACTTGCTGTGCCAG	0.612												
RGAG4	340526	broad.mit.edu	37	X	71349892	71349892	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrX:71349892A>T	uc010nlh.1	-	1	1860	c.1499T>A	c.(1498-1500)ATA>AAA	p.I500K	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	500										ovary(2)|skin(1)	3	Renal(35;0.156)					AGGCTGTATTATGGGAGGTGA	0.552												
BTK	695	broad.mit.edu	37	X	100629566	100629566	+	Silent	SNP	T	T	A			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrX:100629566T>A	uc004ehg.2	-	3	391	c.198A>T	c.(196-198)ACA>ACT	p.T66T	BTK_uc010nnn.2_Silent_p.T66T|BTK_uc010nno.2_Silent_p.T100T|BTK_uc004ehi.2_Silent_p.T66T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	66	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CAGGAACCACTGTTTCAACAC	0.403									Agammaglobulinemia_X-linked			
DDX3Y	8653	broad.mit.edu	37	Y	15029365	15029365	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrY:15029365G>T	uc004fsu.1	+	17	2123	c.1814G>T	c.(1813-1815)GGT>GTT	p.G605V	DDX3Y_uc004fsv.2_Missense_Mutation_p.G605V|DDX3Y_uc010nww.1_Missense_Mutation_p.G421V|DDX3Y_uc011nar.1_Missense_Mutation_p.G602V	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,	605						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding				0						CAAAGTAGTGGTTCCAGCAGT	0.458												
PPP1R9B	84687	broad.mit.edu	37	17	48212917	48212918	+	Splice_Site	DEL	CC	CC	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:48212917_48212918delCC	uc002iqh.3	-	11	2403	c.2400_splice	c.e11+1	p.K800_splice		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B						cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						CCCAGGCCCACCTTGTCCAGGA	0.639												
PTEN	5728	broad.mit.edu	37	10	89717665	89717666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:89717665_89717666insC	uc001kfb.2	+	8	1721_1722	c.690_691insC	c.(688-693)GGACCCfs	p.G230fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	230_231	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAATTCAGGACCCACACGACG	0.426		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PPP1R9B	84687	broad.mit.edu	37	17	48212917	48212918	+	Splice_Site	DEL	CC	CC	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:48212917_48212918delCC	uc002iqh.3	-	11	2403	c.2400_splice	c.e11+1	p.K800_splice		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B						cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						CCCAGGCCCACCTTGTCCAGGA	0.639												
KIAA1841	84542	broad.mit.edu	37	2	61324903	61324913	+	Frame_Shift_Del	DEL	AAGTTCATTGA	AAGTTCATTGA	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:61324903_61324913delAAGTTCATTGA	uc002saw.3	+	12	1584_1594	c.1281_1291delAAGTTCATTGA	c.(1279-1293)GCAAGTTCATTGAATfs	p.A427fs	KIAA1841_uc002sax.3_Frame_Shift_Del_p.A281fs|KIAA1841_uc002say.2_Frame_Shift_Del_p.A427fs	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	427_431											0			Epithelial(17;0.193)			CTACTGCAGCAAGTTCATTGAATACTGTTGG	0.365												
NCAM2	4685	broad.mit.edu	37	21	22664463	22664463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr21:22664463delT	uc002yld.1	+	5	770	c.521delT	c.(520-522)CTCfs	p.L174fs	NCAM2_uc011acb.1_Frame_Shift_Del_p.L32fs|NCAM2_uc011acc.1_Frame_Shift_Del_p.L199fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	174	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGCAGATTCTCAACATCAAT	0.398												
SLAMF8	56833	broad.mit.edu	37	1	159805026	159805026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:159805025_159805025AC>A	uc001fue.4	+	4	1043	c.833_833AC>A	c.(832-834)aacfs	p.N278fs	VSIG8_uc001fug.1_3'UTR	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	278						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAGACAGAGAACCCCCTTGTG	0.488												
ADCY10	55811	broad.mit.edu	37	1	167839517	167839540	+	In_Frame_Del	DEL	GGTACTCAATTTTCATAAGTATCT	GGTACTCAATTTTCATAAGTATCT	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:167839516_167839539AGGTACTCAATTTTCATAAGTATCT>A	uc001ger.3	-	13	1870_1893	c.1572_1595AGATACTTATGAAAATTGAGTACCT>T	c.(1570-1596)cagatacttatgaaaattgagtacctg>caTg	p.524_532QILMKIEYL>H	ADCY10_uc010plj.2_In_Frame_Del_p.371_379QILMKIEYL>H|ADCY10_uc009wvk.3_In_Frame_Del_p.432_440QILMKIEYL>H|ADCY10_uc009wvl.3_In_Frame_Del_p.523_531QILMKIEYL>H	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	524					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTGGGCCAGGTACTCAATTTTCATAAGTATCTGGCTTTTTC	0.371												
ILDR1	286676	broad.mit.edu	37	3	121712708	121712711	+	Frame_Shift_Del	DEL	GAGG	GAGG	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:121712707_121712710TGAGG>T	uc003ees.3	-	6	1089_1092	c.886_889CCTCA>A	c.(886-891)ctcaacfs	p.L296fs	ILDR1_uc003eeq.3_Frame_Shift_Del_p.L264fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.L252fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.L207fs	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	296						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGGCCAGGTTGAGGTTCCGCAGT	0.593												
HTT	3064	broad.mit.edu	37	4	3190679	3190703	+	Frame_Shift_Del	DEL	TTTCTATTACAACTGGTTGGTATTC	TTTCTATTACAACTGGTTGGTATTC	-	rs61731805		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:3190678_3190702GTTTCTATTACAACTGGTTGGTATTC>G	uc021xkv.1	+	39	5371_5395	c.5226_5250GTTTCTATTACAACTGGTTGGTATTC>G	c.(5224-5250)aggtttctattacaactggttggtattfs	p.R1742fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1742					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCTTGGAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAG	0.347												
APC	324	broad.mit.edu	37	5	112175647	112175648	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:112175646_112175647T>TGG	uc003kpz.4	+	16	4548_4549	c.4355_4356T>TGG	c.(4354-4356)gtafs	p.V1452fs	APC_uc011cvt.2_Frame_Shift_Ins_p.V1434fs|APC_uc003kpy.4_Frame_Shift_Ins_p.V1452fs|APC_uc010jbz.3_Frame_Shift_Ins_p.V1169fs|APC_uc010jca.3_Frame_Shift_Ins_p.V752fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1452	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1451*(4)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.E1451fs*23(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGCGAGAAGTACCTAAAAATA	0.490		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
APC	324	broad.mit.edu	37	5	112175683	112175683	+	Frame_Shift_Del	DEL	G	G	-	rs112961968		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:112175682_112175682AG>A	uc003kpz.4	+	16	4584	c.4391_4391AG>A	c.(4390-4392)gagfs	p.E1464fs	APC_uc011cvt.2_Frame_Shift_Del_p.E1446fs|APC_uc003kpy.4_Frame_Shift_Del_p.E1464fs|APC_uc010jbz.3_Frame_Shift_Del_p.E1181fs|APC_uc010jca.3_Frame_Shift_Del_p.E764fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1464	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1464fs*8(66)|p.E1464*(5)|p.R1463fs*6(1)|p.?(1)|p.K1454fs*3(1)|p.E1464K(1)|p.K1192fs*3(1)|p.S1465fs*4(1)|p.S1465fs*3(1)|p.R1463fs*10(1)|p.R1463S(1)|p.E1464D(1)|p.R1463*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAAGAGAGAGAGTGGACCT	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
NUPL2	11097	broad.mit.edu	37	7	23226692	23226692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:23226691_23226691TG>T	uc003svu.3	+	2	630	c.371_371TG>T	c.(370-372)atgfs	p.M124fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	124	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTAAAAGATATGGAGGTTTGG	0.313												
PTEN	5728	broad.mit.edu	37	10	89717666	89717667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:89717665_89717666A>AC	uc001kfb.3	+	6	1722_1723	c.690_691A>AC	c.(688-693)ggacccfs	p.G230fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	230	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.P231fs*12(2)|p.G230fs*26(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAATTCAGGACCCACACGACG	0.426		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MUC6	4588	broad.mit.edu	37	11	1016973	1016974	+	Frame_Shift_Del	DEL	GT	GT	-	rs71472140		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:1016972_1016973GGT>G	uc001lsw.2	-	30	5879_5880	c.5828_5829ACC>C	c.(5827-5829)accfs	p.T1943fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1943	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCTGTACTGGTGTGTTTGGG	0.574												
NF1	4763	broad.mit.edu	37	17	29509580	29509580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:29509579_29509579CG>C	uc002hgg.3	+	7	1167	c.784_784CG>C	c.(784-786)cgtfs	p.R262fs	NF1_uc002hge.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgf.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgh.3_Frame_Shift_Del_p.R262fs|NF1_uc010csn.2_Frame_Shift_Del_p.R122fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	262					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGCACCAAACGTAAAGCAGC	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
