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
SLC45A1	50651	broad.mit.edu	37	1	8390428	8390428	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:8390428C>T	uc001apb.2	+	4	875	c.875C>T	c.(874-876)CCG>CTG	p.P292L	SLC45A1_uc001apc.2_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	292					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAGAGGCCGCTGCGGCCG	0.697000												
SLC2A5	6518	broad.mit.edu	37	1	9097965	9097965	+	Silent	SNP	C	C	T	rs111341866	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:9097965C>T	uc001apo.2	-	11	1585	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	SLC2A5_uc010nzy.1_Silent_p.P372P|SLC2A5_uc010nzz.1_Silent_p.P316P|SLC2A5_uc010oaa.1_Silent_p.P387P|SLC2A5_uc010oab.1_Silent_p.P431P	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	431	Helical; Name=11; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGATGAACGGGAAGATCA	0.617000												
CLSTN1	22883	broad.mit.edu	37	1	9790620	9790620	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:9790620C>T	uc001aqh.2	-	19	3651	c.2892G>A	c.(2890-2892)CAG>CAA	p.Q964Q	CLSTN1_uc001aqi.2_Silent_p.Q954Q|CLSTN1_uc010oag.1_Silent_p.Q945Q|CLSTN1_uc001aqf.2_Silent_p.Q228Q	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	964	Cytoplasmic (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTTGCGTTCTGGGGGTCGC	0.607000												
PAX7	5081	broad.mit.edu	37	1	18961684	18961684	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:18961684G>T	uc001bay.2	+	3	999	c.401G>T	c.(400-402)CGG>CTG	p.R134L	PAX7_uc001baz.2_Missense_Mutation_p.R134L|PAX7_uc010oct.1_Missense_Mutation_p.R134L	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	134	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGGGAGATCCGGGACAGGCTG	0.597000			T	FOXO1A	alveolar rhabdomyosarcoma							
LUZP1	7798	broad.mit.edu	37	1	23417805	23417805	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:23417805C>T	uc001bgk.2	-	4	3334	c.2950G>A	c.(2950-2952)GAT>AAT	p.D984N	LUZP1_uc010odv.1_Missense_Mutation_p.D984N|LUZP1_uc001bgl.2_Missense_Mutation_p.D984N|LUZP1_uc001bgm.1_Missense_Mutation_p.D984N	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	984						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGGGGCATCCCCTGAACTT	0.577000												
MYOM3	127294	broad.mit.edu	37	1	24416562	24416562	+	Silent	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:24416562A>T	uc001bin.3	-	13	1642	c.1479T>A	c.(1477-1479)GCT>GCA	p.A493A	MYOM3_uc001bim.3_Silent_p.A150A|MYOM3_uc001bio.2_Silent_p.A493A|MYOM3_uc001bip.1_Silent_p.A150A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	493										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TACCTTCAAAAGCGTCTGTGC	0.552000												
BEND5	79656	broad.mit.edu	37	1	49201993	49201993	+	Silent	SNP	G	G	A	rs149855111	by1000genomes	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:49201993G>A	uc001crx.3	-	5	1070	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.S173S	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	342	BEN.									skin(1)	1						CGCCTGTGACGCTTCTGTTTT	0.468000												
WDR78	79819	broad.mit.edu	37	1	67301455	67301455	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:67301455T>C	uc001dcx.2	-	11	1643	c.1587A>G	c.(1585-1587)CCA>CCG	p.P529P	WDR78_uc009waw.2_Silent_p.P275P|WDR78_uc009wax.2_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	529										ovary(2)	2						AAATACGTTCTGGCCACTAAA	0.378000												
DPYD	1806	broad.mit.edu	37	1	97915763	97915763	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:97915763A>C	uc001drv.2	-	14	1894	c.1757T>G	c.(1756-1758)GTT>GGT	p.V586G		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	586					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCTGGGGGAAACATTTGTCAC	0.418000												
KCNA2	3737	broad.mit.edu	37	1	111146041	111146041	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:111146041T>G	uc001dzu.2	-	2	1860	c.1364A>C	c.(1363-1365)AAG>ACG	p.K455T	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.K455T	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	455						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GTAATCAGACTTACTAATGGT	0.443000												
KCNA2	3737	broad.mit.edu	37	1	111147160	111147160	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:111147160C>T	uc001dzu.2	-	2	741	c.245G>A	c.(244-246)CGC>CAC	p.R82H	KCNA2_uc009wfv.1_Missense_Mutation_p.R82H|KCNA2_uc009wfw.2_Missense_Mutation_p.R82H	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	82						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAAGCTAGGGCGGTTCCGATC	0.478000												
SYCP1	6847	broad.mit.edu	37	1	115428890	115428890	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:115428890G>C	uc001efr.2	+	14	1359	c.1150G>C	c.(1150-1152)GTC>CTC	p.V384L	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.V384L|SYCP1_uc009wgw.2_Missense_Mutation_p.V384L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	384	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAACTACTGTCTGCAGCTT	0.284000												
PDE4DIP	9659	broad.mit.edu	37	1	144921933	144921933	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:144921933C>T	uc001elw.3	-	9	1387	c.1096G>A	c.(1096-1098)GAG>AAG	p.E366K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E432K|PDE4DIP_uc001emc.1_Missense_Mutation_p.E366K|PDE4DIP_uc001emd.1_Missense_Mutation_p.E366K|PDE4DIP_uc001emb.1_Missense_Mutation_p.E529K|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.E153K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	366	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTGGCGCTCTTTCTGTCGT	0.483000			T	PDGFRB	MPD							
LOC200030	200030	broad.mit.edu	37	1	148017549	148017549	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:148017549A>C	uc001eqf.2	-	12	1789	c.1754T>G	c.(1753-1755)TTT>TGT	p.F585C	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|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_uc009wkf.1_RNA|NBPF14_uc001eqq.2_Missense_Mutation_p.F245C|NBPF14_uc001eqs.1_Missense_Mutation_p.F124C	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN	hypothetical protein LOC55672	585	NBPF 3.					cytoplasm					0						TAATGAGTGAAATGTGCTGCT	0.488000												
FLG	2312	broad.mit.edu	37	1	152277559	152277559	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152277559G>T	uc001ezu.1	-	3	9839	c.9803C>A	c.(9802-9804)GCA>GAA	p.A3268E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3268	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCGGTCTGCAGAGTGCCC	0.577000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152279828	152279828	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152279828T>C	uc001ezu.1	-	3	7570	c.7534A>G	c.(7534-7536)AGT>GGT	p.S2512G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2512	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.562000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152282729	152282729	+	Silent	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152282729T>G	uc001ezu.1	-	3	4669	c.4633A>C	c.(4633-4635)AGA>CGA	p.R1545R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1545	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCATTTCTTGTTTGCCTG	0.587000									Ichthyosis			
GBA	2629	broad.mit.edu	37	1	155207192	155207192	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:155207192G>A	uc001fjh.2	-	7	1089	c.939C>T	c.(937-939)CAC>CAT	p.H313H	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.H200H|GBA_uc010pfx.1_Silent_p.H264H|GBA_uc001fji.2_Silent_p.H313H|GBA_uc001fjj.2_Silent_p.H313H|GBA_uc001fjk.2_Silent_p.H313H|GBA_uc001fjl.2_Silent_p.H313H|GBA_uc010pfy.1_Silent_p.H226H|GBA_uc009wqk.1_Silent_p.H226H	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	313					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGCGGACATTGTGGTGAGTAC	0.572000									Gaucher_disease_type_I			
GPATCH4	54865	broad.mit.edu	37	1	156568060	156568060	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:156568060A>C	uc001fpm.2	-	4	259	c.220T>G	c.(220-222)TTC>GTC	p.F74V	GPATCH4_uc001fpl.2_Missense_Mutation_p.F69V	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	69						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTTGTTGAAGAGCTCATTC	0.547000												
OR6Y1	391112	broad.mit.edu	37	1	158517000	158517000	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:158517000T>G	uc010pil.1	-	1	896	c.896A>C	c.(895-897)AAC>ACC	p.N299T		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TACTTCATGGTTCCTCAGACA	0.443000												
C1orf129	80133	broad.mit.edu	37	1	170934299	170934299	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:170934299T>C	uc001ghg.2	+	7	513	c.383T>C	c.(382-384)CTC>CCC	p.L128P	C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.L128P	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	128							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGGAAATGCTCGTGTGGATG	0.368000												
CACNA1E	777	broad.mit.edu	37	1	181764055	181764055	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:181764055G>A	uc001gow.2	+	45	6119	c.5954G>A	c.(5953-5955)CGT>CAT	p.R1985H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1873H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1254H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2028	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CGGGATAAGCGTTCAAATTCC	0.498000												
RNASEL	6041	broad.mit.edu	37	1	182555272	182555272	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:182555272G>A	uc001gpj.1	-	1	837	c.670C>T	c.(670-672)CTG>TTG	p.L224L	RNASEL_uc009wxz.1_Silent_p.L224L|RNASEL_uc001gpk.2_Silent_p.L224L|RNASEL_uc009wya.1_Silent_p.L224L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	224	ANK 6.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TCCAGCAGCAGATGCGTAATA	0.532000									Hereditary_Prostate_Cancer			
SYT2	127833	broad.mit.edu	37	1	202571672	202571672	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:202571672A>T	uc001gye.2	-	5	660	c.467T>A	c.(466-468)CTT>CAT	p.L156H	SYT2_uc010pqb.1_Missense_Mutation_p.L156H|SYT2_uc009xaf.2_5'UTR	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	156	Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCCCACAGTAAGCTGTGGAGA	0.582000												
IL10	3586	broad.mit.edu	37	1	206943236	206943236	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:206943236G>C	uc001hen.1	-	4	441	c.382C>G	c.(382-384)CGA>GGA	p.R128G		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	128					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAAATCGATGCTGTGGA	0.512000												
CENPF	1063	broad.mit.edu	37	1	214815817	214815817	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:214815817T>G	uc001hkm.2	+	12	4310	c.4136T>G	c.(4135-4137)GTG>GGG	p.V1379G		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGCACCCTGTGTCTTTGGCT	0.408000												
ESRRG	2104	broad.mit.edu	37	1	216692702	216692702	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:216692702A>C	uc001hkw.1	-	6	1090	c.924T>G	c.(922-924)ATT>ATG	p.I308M	ESRRG_uc001hky.1_Missense_Mutation_p.I285M|ESRRG_uc009xdp.1_Missense_Mutation_p.I285M|ESRRG_uc001hkz.1_Missense_Mutation_p.I246M|ESRRG_uc010puc.1_Missense_Mutation_p.I285M|ESRRG_uc001hla.1_Missense_Mutation_p.I285M|ESRRG_uc001hlb.1_Missense_Mutation_p.I285M|ESRRG_uc010pud.1_Missense_Mutation_p.I116M|ESRRG_uc001hlc.1_Missense_Mutation_p.I285M|ESRRG_uc001hld.1_Missense_Mutation_p.I285M|ESRRG_uc001hkx.1_Missense_Mutation_p.I320M|ESRRG_uc009xdo.1_Missense_Mutation_p.I285M|ESRRG_uc001hle.1_Missense_Mutation_p.I285M	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	308					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAAGGATCAAAATTTCCATCC	0.478000												
ESRRG	2104	broad.mit.edu	37	1	216692733	216692733	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:216692733A>C	uc001hkw.1	-	6	1059	c.893T>G	c.(892-894)ATG>AGG	p.M298R	ESRRG_uc001hky.1_Missense_Mutation_p.M275R|ESRRG_uc009xdp.1_Missense_Mutation_p.M275R|ESRRG_uc001hkz.1_Missense_Mutation_p.M236R|ESRRG_uc010puc.1_Missense_Mutation_p.M275R|ESRRG_uc001hla.1_Missense_Mutation_p.M275R|ESRRG_uc001hlb.1_Missense_Mutation_p.M275R|ESRRG_uc010pud.1_Missense_Mutation_p.M106R|ESRRG_uc001hlc.1_Missense_Mutation_p.M275R|ESRRG_uc001hld.1_Missense_Mutation_p.M275R|ESRRG_uc001hkx.1_Missense_Mutation_p.M310R|ESRRG_uc009xdo.1_Missense_Mutation_p.M275R|ESRRG_uc001hle.1_Missense_Mutation_p.M275R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	298					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAGAAGGCTCATCTGGTCCGC	0.428000												
NID1	4811	broad.mit.edu	37	1	236212088	236212088	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:236212088G>A	uc001hxo.2	-	2	529	c.427C>T	c.(427-429)CCG>TCG	p.P143S	NID1_uc009xgd.2_Missense_Mutation_p.P143S	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	143	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAGATCTCCGGGAACCCTCTG	0.582000												
RYR2	6262	broad.mit.edu	37	1	237756796	237756796	+	Silent	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:237756796C>A	uc001hyl.1	+	33	4416	c.4296C>A	c.(4294-4296)ATC>ATA	p.I1432I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1432	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTGAGAATCTTTCCTGGAC	0.398000												
RYR2	6262	broad.mit.edu	37	1	237758906	237758906	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:237758906C>A	uc001hyl.1	+	34	4665	c.4545C>A	c.(4543-4545)AGC>AGA	p.S1515R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1515	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCTGCCAGCGGGCTGCTCA	0.522000												
ZNF669	79862	broad.mit.edu	37	1	247263752	247263752	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:247263752T>C	uc001ice.2	-	4	1492	c.1319A>G	c.(1318-1320)CAT>CGT	p.H440R	ZNF669_uc001icf.2_Missense_Mutation_p.H354R	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	440	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			cTCTATATCATGACTTCTTTC	0.224000												
OR2L2	26246	broad.mit.edu	37	1	248202430	248202430	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:248202430C>T	uc001idw.2	+	1	957	c.861C>T	c.(859-861)ATC>ATT	p.I287I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCAACCCCATCATCTACAGCC	0.463000												
PRKCQ	5588	broad.mit.edu	37	10	6470192	6470192	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:6470192C>T	uc001ijj.1	-	18	2173	c.2098G>A	c.(2098-2100)GGG>AGG	p.G700R	PRKCQ_uc009xim.1_Missense_Mutation_p.G637R|PRKCQ_uc001iji.1_Missense_Mutation_p.G733R|PRKCQ_uc009xin.1_Missense_Mutation_p.G664R|PRKCQ_uc010qax.1_Missense_Mutation_p.G575R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	700	AGC-kinase C-terminal.			G -> R (in Ref. 1; AAA75571 and 4; AAU29340).	axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CGCTCCATCCCGGGGTTCATG	0.498000												
MLLT10	8028	broad.mit.edu	37	10	21962549	21962549	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:21962549G>A	uc001iqs.2	+	11	1670	c.1322G>A	c.(1321-1323)GGT>GAT	p.G441D	MLLT10_uc001iqt.2_Missense_Mutation_p.G441D|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.G441D|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.G196D	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	441	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						GGAGATTTGGGTAATTCCAGC	0.408000			T	MLL|PICALM|CDK6	AL							
ITGB1	3688	broad.mit.edu	37	10	33197334	33197334	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:33197334T>C	uc001iws.3	-	15	2429	c.2293A>G	c.(2293-2295)AAA>GAA	p.K765E	ITGB1_uc001iwp.3_Missense_Mutation_p.K765E|ITGB1_uc001iwq.3_Missense_Mutation_p.K765E|ITGB1_uc001iwr.3_Missense_Mutation_p.K765E|ITGB1_uc001iwt.3_Missense_Mutation_p.K765E|ITGB1_uc001iwu.1_Missense_Mutation_p.K765E	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	765	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTTTCAAATTTAGCAAACTCC	0.358000												
ANKRD30A	91074	broad.mit.edu	37	10	37508073	37508073	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:37508073G>A	uc001iza.1	+	34	3364	c.3265G>A	c.(3265-3267)GAA>AAA	p.E1089K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1145	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAGAATGCTGAACTTCAGAT	0.358000												
PCDH15	65217	broad.mit.edu	37	10	55566448	55566448	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:55566448T>G	uc010qhq.1	-	36	5335	c.4940A>C	c.(4939-4941)AAG>ACG	p.K1647T	PCDH15_uc010qhr.1_Missense_Mutation_p.K1642T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTGATGTTCTTACTGTCAAT	0.478000										HNSCC(58;0.16)		
CTNNA3	29119	broad.mit.edu	37	10	68526056	68526056	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68526056G>A	uc009xpn.1	-	9	1370	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	CTNNA3_uc001jmw.2_Missense_Mutation_p.A416V|CTNNA3_uc001jmx.3_Missense_Mutation_p.A416V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ATGAAATATCGCAGCATATTC	0.438000												
CTNNA3	29119	broad.mit.edu	37	10	68535278	68535278	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68535278C>G	uc009xpn.1	-	8	1175	c.1052G>C	c.(1051-1053)GGA>GCA	p.G351A	CTNNA3_uc001jmw.2_Missense_Mutation_p.G351A|CTNNA3_uc001jmx.3_Missense_Mutation_p.G351A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	351	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTCTTTTTTTCCAGCCTGCAA	0.358000												
SMC3	9126	broad.mit.edu	37	10	112360880	112360880	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:112360880G>A	uc001kze.2	+	23	2762	c.2636G>A	c.(2635-2637)CGA>CAA	p.R879Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	879	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTATGGCACGATCAGAAGGT	0.348000												
TACC2	10579	broad.mit.edu	37	10	124008317	124008317	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:124008317A>G	uc001lfv.2	+	20	8912	c.8552A>G	c.(8551-8553)AAG>AGG	p.K2851R	TACC2_uc001lfw.2_Missense_Mutation_p.K997R|TACC2_uc009xzx.2_Missense_Mutation_p.K2729R|TACC2_uc010qtv.1_Missense_Mutation_p.K2778R|TACC2_uc001lfx.2_Missense_Mutation_p.K478R|TACC2_uc001lfy.2_Missense_Mutation_p.K474R|TACC2_uc001lfz.2_Missense_Mutation_p.K929R|TACC2_uc001lga.2_Missense_Mutation_p.K899R|TACC2_uc009xzy.2_Missense_Mutation_p.K911R|TACC2_uc001lgb.2_Missense_Mutation_p.K809R	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2851	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCTTCCGCAAGGTAGGGCTG	0.567000												
PNPLA2	57104	broad.mit.edu	37	11	821985	821985	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:821985G>A	uc001lrt.2	+	4	650	c.448G>A	c.(448-450)GTG>ATG	p.V150M	PNPLA2_uc009ycl.2_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	150	Lumenal (Potential).|Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTTCATCCCCGTGTACTGTGG	0.632000												
OR51I1	390063	broad.mit.edu	37	11	5462125	5462125	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:5462125A>C	uc010qze.1	-	1	620	c.620T>G	c.(619-621)TTT>TGT	p.F207C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATAGGTAAAAATGATCAC	0.448000												
ALX4	60529	broad.mit.edu	37	11	44297059	44297059	+	Missense_Mutation	SNP	C	C	T	rs140457891		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:44297059C>T	uc001myb.2	-	2	720	c.616G>A	c.(616-618)GAC>AAC	p.D206N		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	206					hair follicle development						0						CTCTCTGAGTCGGCCTTCTCC	0.627000												
LRP4	4038	broad.mit.edu	37	11	46884284	46884284	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:46884284T>C	uc001ndn.3	-	37	5404	c.5258A>G	c.(5257-5259)AAG>AGG	p.K1753R	uc001ndl.2_Intron|LRP4_uc001ndm.3_5'UTR	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1753	Cytoplasmic (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		ATCAGTGAACTTGGATTTTTT	0.443000												
OR8J3	81168	broad.mit.edu	37	11	55904650	55904650	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:55904650G>T	uc010riz.1	-	1	545	c.545C>A	c.(544-546)GCA>GAA	p.A182E		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TAACAGAGGTGCAATATCACA	0.328000												
OR5T2	219464	broad.mit.edu	37	11	56000013	56000013	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:56000013A>G	uc010rjc.1	-	1	649	c.649T>C	c.(649-651)TTT>CTT	p.F217L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	217	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATATCACAAAAGACACGCCTA	0.423000												
OR5M3	219482	broad.mit.edu	37	11	56237885	56237885	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:56237885A>G	uc010rjk.1	-	1	89	c.89T>C	c.(88-90)CTT>CCT	p.L30P		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTAGACCACAAGAAAGATGAT	0.438000												
ZFP91	80829	broad.mit.edu	37	11	58379103	58379103	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:58379103C>T	uc001nmx.3	+	6	917	c.749C>T	c.(748-750)TCA>TTA	p.S250L	ZFP91_uc001nmy.3_Missense_Mutation_p.S249L|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	250	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGGAGAAAATCAgggaaggta	0.189000												
C11orf66	220004	broad.mit.edu	37	11	61257335	61257335	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:61257335C>T	uc001nru.1	+	12	1250	c.1125C>T	c.(1123-1125)TAC>TAT	p.Y375Y	C11orf66_uc009ynq.1_Silent_p.Y355Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	375										ovary(1)	1						CAGGAGGCTACGCCCTCAGCC	0.657000												
FKBP2	2286	broad.mit.edu	37	11	64009967	64009967	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:64009967G>C	uc001nyy.2	+	2	304	c.108G>C	c.(106-108)AAG>AAC	p.K36N	FKBP2_uc010rnh.1_Missense_Mutation_p.K36N|FKBP2_uc001nyz.2_Missense_Mutation_p.K36N	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	36					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						TCGGGGTCAAGAAGCGGGTGG	0.622000												
SPDYC	387778	broad.mit.edu	37	11	64940349	64940349	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:64940349C>T	uc010rnz.1	+	6	711	c.711C>T	c.(709-711)TGC>TGT	p.C237C		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	237					cell cycle	nucleus	protein kinase binding				0						CATCCAAGTGCCCTTCTCTGA	0.602000												
FAT3	120114	broad.mit.edu	37	11	92495111	92495111	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:92495111G>T	uc001pdj.3	+	4	3776	c.3759G>T	c.(3757-3759)CAG>CAT	p.Q1253H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1253	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAAGCCCCAGTTCCCAGAGA	0.483000										TCGA Ovarian(4;0.039)		
PGR	5241	broad.mit.edu	37	11	100920672	100920672	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:100920672G>C	uc001pgh.2	-	6	3219	c.2476C>G	c.(2476-2478)CTT>GTT	p.L826V	PGR_uc001pgg.2_Missense_Mutation_p.L207V|PGR_uc001pgi.2_Missense_Mutation_p.L724V|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	826	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GTATTAAGAAGTAACAATACT	0.323000												
DYNC2H1	79659	broad.mit.edu	37	11	103306730	103306730	+	Silent	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:103306730A>G	uc001pho.2	+	85	12570	c.12426A>G	c.(12424-12426)AGA>AGG	p.R4142R	DYNC2H1_uc001phn.1_Silent_p.R4149R|DYNC2H1_uc009yxe.1_Silent_p.R755R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4142					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATACCTGAGAGGTCTTGTTG	0.413000												
PHLDB1	23187	broad.mit.edu	37	11	118498963	118498963	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:118498963G>A	uc001ptr.1	+	7	1777	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	PHLDB1_uc001pts.2_Missense_Mutation_p.R475Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R475Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R275Q|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	475											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGCCCACCCGGACCACCCCA	0.672000												
ADAMTS8	11095	broad.mit.edu	37	11	130288995	130288995	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:130288995C>T	uc001qgg.3	-	2	1271	c.913G>A	c.(913-915)GAC>AAC	p.D305N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	305	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTGGCGGTCGCTGGGCTGG	0.612000												
JAM3	83700	broad.mit.edu	37	11	134014823	134014823	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:134014823G>A	uc001qhb.1	+	5	705	c.681G>A	c.(679-681)ACG>ACA	p.T227T	JAM3_uc009zcz.1_Silent_p.T176T	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	182	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CACTGCCCACGGATTCCAGAG	0.512000												
RECQL	5965	broad.mit.edu	37	12	21626568	21626568	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:21626568C>A	uc001rex.2	-	13	1712	c.1364G>T	c.(1363-1365)CGT>CTT	p.R455L	RECQL_uc001rey.2_Missense_Mutation_p.R455L	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	455					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						CATCAACACACGACGACATCT	0.308000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
DENND5B	160518	broad.mit.edu	37	12	31586168	31586168	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:31586168C>T	uc001rki.1	-	8	2213	c.2027G>A	c.(2026-2028)CGG>CAG	p.R676Q	DENND5B_uc001rkh.1_Missense_Mutation_p.R711Q|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.R698Q	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676						integral to membrane				ovary(1)|central_nervous_system(1)	2						AGTGGCACTCCGACTTACCCA	0.448000												
YARS2	51067	broad.mit.edu	37	12	32908614	32908614	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:32908614G>A	uc001rli.2	-	1	261	c.195C>T	c.(193-195)TTC>TTT	p.F65F		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	65					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGCCACGGTCGAAGAGCTCTG	0.592000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PKP2	5318	broad.mit.edu	37	12	32994053	32994053	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:32994053T>C	uc001rlj.3	-	7	1712	c.1597A>G	c.(1597-1599)ATC>GTC	p.I533V	PKP2_uc001rlk.3_Missense_Mutation_p.I489V|PKP2_uc010skj.1_Missense_Mutation_p.I489V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	533					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAAGGGGATGATGATATTC	0.418000												
LRRK2	120892	broad.mit.edu	37	12	40728856	40728856	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:40728856T>G	uc001rmg.3	+	40	5966	c.5845T>G	c.(5845-5847)TTA>GTA	p.L1949V	LRRK2_uc009zjw.2_Missense_Mutation_p.L787V|LRRK2_uc001rmi.2_Missense_Mutation_p.L782V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1949	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGATGGAGTTAGCCTCCAA	0.542000												
MLL2	8085	broad.mit.edu	37	12	49443503	49443503	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:49443503G>A	uc001rta.3	-	11	3868	c.3868C>T	c.(3868-3870)CGG>TGG	p.R1290W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1290	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGCGCCGCCGCCCCTTCTCC	0.587000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KRT71	112802	broad.mit.edu	37	12	52943836	52943836	+	Silent	SNP	G	G	A	rs113716134		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:52943836G>A	uc001sao.2	-	2	703	c.633C>T	c.(631-633)GAC>GAT	p.D211D		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	211	Coil 1B.|Rod.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTCCACTACGTCCCGCACAT	0.612000												
TENC1	23371	broad.mit.edu	37	12	53454673	53454673	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:53454673C>T	uc001sbp.2	+	20	3118	c.2983C>T	c.(2983-2985)CAC>TAC	p.H995Y	TENC1_uc001sbl.2_Missense_Mutation_p.H871Y|TENC1_uc001sbn.2_Missense_Mutation_p.H1005Y|TENC1_uc001sbq.2_Missense_Mutation_p.H393Y|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.H490Y|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	995	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						TCCAGGGGGCCACTCAGATGG	0.701000												
LRP1	4035	broad.mit.edu	37	12	57605723	57605723	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:57605723C>T	uc001snd.2	+	87	13738	c.13272C>T	c.(13270-13272)ATC>ATT	p.I4424I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4424	Helical; (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TAGCCTCCATCCTAATCCCTC	0.592000												
C12orf12	196477	broad.mit.edu	37	12	91348076	91348076	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:91348076G>A	uc001tbj.2	-	1	878	c.444C>T	c.(442-444)CGC>CGT	p.R148R		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	148										central_nervous_system(1)|pancreas(1)	2						GGCGCAGGCCGCGGCCTCTGC	0.697000												
LUM	4060	broad.mit.edu	37	12	91502123	91502123	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:91502123A>C	uc001tbm.2	-	2	1023	c.634T>G	c.(634-636)TTA>GTA	p.L212V	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	212	LRR 7.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						TTGTTGTCTAAGTAGAGAGTT	0.413000												
GAS2L3	283431	broad.mit.edu	37	12	100995421	100995421	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:100995421A>T	uc001thu.2	+	5	419	c.193A>T	c.(193-195)AAA>TAA	p.K65*	GAS2L3_uc009zty.2_Nonsense_Mutation_p.K65*|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	65	CH.				cell cycle arrest					skin(1)	1						TTTAGGTATTAAAGTTAAGGC	0.269000												
GNPTAB	79158	broad.mit.edu	37	12	102155373	102155373	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:102155373C>T	uc001tit.2	-	14	3063	c.2884G>A	c.(2884-2886)GAC>AAC	p.D962N		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	962					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						ACAATCCGGTCAATCATGTGA	0.383000												
RBM19	9904	broad.mit.edu	37	12	114390388	114390388	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:114390388A>T	uc009zwi.2	-	8	1073	c.929T>A	c.(928-930)GTT>GAT	p.V310D	RBM19_uc001tvn.3_Missense_Mutation_p.V310D|RBM19_uc001tvm.2_Missense_Mutation_p.V310D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	310	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAATTCCATAACATTTTTCTG	0.408000												
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:58299162T>C	uc001vhq.1	+	4	4106	c.3214T>C	c.(3214-3216)TTG>CTG	p.L1072L	PCDH17_uc010aec.1_Silent_p.L1071L|PCDH17_uc001vhr.1_Silent_p.L161L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1072	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532000												
MYO16	23026	broad.mit.edu	37	13	109793645	109793645	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:109793645C>T	uc001vqt.1	+	32	5145	c.5019C>T	c.(5017-5019)GAC>GAT	p.D1673D	MYO16_uc010agk.1_Silent_p.D1695D	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1673					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCCCCTGGACGAGCTCGCCA	0.667000												
ATP11A	23250	broad.mit.edu	37	13	113512571	113512571	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:113512571G>A	uc001vsi.3	+	22	2722	c.2634G>A	c.(2632-2634)AGG>AGA	p.R878R	ATP11A_uc001vsj.3_Silent_p.R878R|ATP11A_uc001vsm.1_Silent_p.R754R|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	878	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R878R(1)		large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACATTAGGATCTCTGAGC	0.522000												
ATP4B	496	broad.mit.edu	37	13	114304735	114304735	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:114304735C>T	uc001vtz.2	-	6	742	c.700G>A	c.(700-702)GGG>AGG	p.G234R		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	234	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	GCTTTCTTCCCGTAATAAGGG	0.577000												
OR4K2	390431	broad.mit.edu	37	14	20344477	20344477	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:20344477C>T	uc001vwh.1	+	1	51	c.51C>T	c.(49-51)CTC>CTT	p.L17L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTGGGGCTCTCTAATTCCT	0.378000												
OR4N5	390437	broad.mit.edu	37	14	20612797	20612797	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:20612797G>T	uc010tla.1	+	1	903	c.903G>T	c.(901-903)TTG>TTT	p.L301F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGAGGAAGTTGTTAAGTCAAC	0.373000												
SLC7A8	23428	broad.mit.edu	37	14	23635621	23635621	+	Missense_Mutation	SNP	C	C	T	rs139927895	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:23635621C>T	uc001wiz.2	-	2	1006	c.280G>A	c.(280-282)GCT>ACT	p.A94T	SLC7A8_uc010akj.2_Missense_Mutation_p.A94T	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	94					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCGAGTTCAGCATAGCAGAGG	0.552000												
C14orf39	317761	broad.mit.edu	37	14	60903742	60903742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:60903742C>A	uc001xez.3	-	18	1695	c.1585G>T	c.(1585-1587)GGA>TGA	p.G529*	C14orf39_uc010apo.2_Nonsense_Mutation_p.G240*	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	529										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCATCTTCTCCTTCTGGCTTC	0.318000												
OR4N4	283694	broad.mit.edu	37	15	22382668	22382668	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:22382668T>C	uc001yuc.1	+	7	1177	c.196T>C	c.(196-198)TTG>CTG	p.L66L	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.L66L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGGGCAACTTGGCCTTCCT	0.468000												
VPS39	23339	broad.mit.edu	37	15	42479994	42479994	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:42479994G>A	uc001zpd.2	-	7	587	c.436C>T	c.(436-438)CTC>TTC	p.L146F	VPS39_uc001zpc.2_Missense_Mutation_p.L135F	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	146	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGAAATAGAGCTGCAGCTTC	0.493000												
TGM5	9333	broad.mit.edu	37	15	43552280	43552280	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:43552280A>C	uc001zrd.1	-	3	414	c.406T>G	c.(406-408)TTC>GTC	p.F136V	TGM5_uc001zre.1_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	136					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCAGGATGAACTCCCCTAGC	0.607000												
SLTM	79811	broad.mit.edu	37	15	59192084	59192084	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:59192084T>C	uc002afp.2	-	7	730	c.642A>G	c.(640-642)TCA>TCG	p.S214S	SLTM_uc002afo.2_Splice_Site_p.E197_splice|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Intron	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	214	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGCTCCCTTCTGAAGGAAGAG	0.423000												
RORA	6095	broad.mit.edu	37	15	60806883	60806883	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:60806883C>T	uc002agv.2	-	5	611	c.455G>A	c.(454-456)CGA>CAA	p.R152Q	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R64Q|RORA_uc002agw.2_Missense_Mutation_p.R144Q|RORA_uc002agx.2_Missense_Mutation_p.R119Q	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	152	NR C4-type.|Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TCTACTGGTTCGATCAATCAA	0.453000												
TMEM8A	58986	broad.mit.edu	37	16	427758	427758	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:427758C>T	uc002cgu.3	-	2	341	c.212G>A	c.(211-213)CGC>CAC	p.R71H	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	71	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						TGGGGGCACGCGGAAGCGGAA	0.672000												
A2BP1	54715	broad.mit.edu	37	16	7703854	7703854	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:7703854C>T	uc002cys.2	+	12	1783	c.795C>T	c.(793-795)GCC>GCT	p.A265A	A2BP1_uc010buf.1_Silent_p.A265A|A2BP1_uc002cyr.1_Silent_p.A264A|A2BP1_uc002cyt.2_Silent_p.A238A|A2BP1_uc010uxz.1_Silent_p.A308A|A2BP1_uc010uya.1_Silent_p.A222A|A2BP1_uc002cyv.1_Silent_p.A265A|A2BP1_uc010uyb.1_Silent_p.A265A|A2BP1_uc002cyw.2_Silent_p.A285A|A2BP1_uc002cyy.2_Silent_p.A285A|A2BP1_uc002cyx.2_Silent_p.A285A|A2BP1_uc010uyc.1_Silent_p.A258A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	265					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCGCCGCGGCCGCCTACCGAG	0.592000												
DNAH3	55567	broad.mit.edu	37	16	21080793	21080793	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:21080793T>A	uc010vbe.1	-	23	3324	c.3324A>T	c.(3322-3324)GAA>GAT	p.E1108D		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1108	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCCTCCCCTCTTCTGGCATCT	0.433000												
COG7	91949	broad.mit.edu	37	16	23421679	23421679	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:23421679A>C	uc002dlo.2	-	11	1600	c.1412T>G	c.(1411-1413)ATA>AGA	p.I471R		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	471					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		GGTGGCTATTATCCTAAACAA	0.448000												
ASPHD1	253982	broad.mit.edu	37	16	29913170	29913170	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:29913170C>G	uc002dut.2	+	1	1024	c.878C>G	c.(877-879)TCC>TGC	p.S293C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	293	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0						GCCGGCTTTTCCGTTCTCCTG	0.652000												
TRIM72	493829	broad.mit.edu	37	16	31232220	31232220	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:31232220T>C	uc002ebn.1	+	5	950	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	241					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						TCTCCAGAAATACTGCCTGGT	0.542000												
CNGB1	1258	broad.mit.edu	37	16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:57953078C>T	uc002emt.2	-	20	1947	c.1882G>A	c.(1882-1884)GAC>AAC	p.D628N	CNGB1_uc010cdh.2_Missense_Mutation_p.D622N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	628	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGAGCATGTCGCAATAGTGC	0.577000												
FTSJD1	55783	broad.mit.edu	37	16	71318662	71318662	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:71318662C>A	uc010cga.2	-	3	1568	c.1162G>T	c.(1162-1164)GCG>TCG	p.A388S	FTSJD1_uc002ezy.3_Missense_Mutation_p.A388S|FTSJD1_uc002ezz.3_Missense_Mutation_p.A388S	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	388						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						TCTTGTTCCGCCTTTCCCATG	0.313000												
PRPF8	10594	broad.mit.edu	37	17	1562830	1562830	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:1562830G>A	uc002fte.2	-	32	5073	c.4959C>T	c.(4957-4959)GAC>GAT	p.D1653D		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1653						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGTGGTGCTGTCCATCACAT	0.517000												
TRIM16	10626	broad.mit.edu	37	17	15539554	15539554	+	Silent	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:15539554A>G	uc002gox.2	-	6	1202	c.645T>C	c.(643-645)GCT>GCC	p.A215A	TRIM16_uc002gor.1_Silent_p.A215A|TRIM16_uc002gow.2_5'UTR|TRIM16_uc002goy.2_Silent_p.A85A	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	215					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACTGCATTTCAGCCACCGCTT	0.552000												
KIAA0100	9703	broad.mit.edu	37	17	26961094	26961094	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:26961094C>T	uc002hbu.2	-	17	3180	c.3081G>A	c.(3079-3081)AGG>AGA	p.R1027R		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1027						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GTGGATAGTCCCTGATCCGAA	0.557000												
SYNRG	11276	broad.mit.edu	37	17	35945511	35945511	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:35945511G>A	uc002hoa.2	-	5	482	c.399C>T	c.(397-399)CTC>CTT	p.L133L	SYNRG_uc010wde.1_Silent_p.L133L|SYNRG_uc010wdf.1_Silent_p.L133L|SYNRG_uc002hoc.2_Silent_p.L132L|SYNRG_uc002hoe.2_Silent_p.L133L|SYNRG_uc002hod.2_Silent_p.L133L|SYNRG_uc010wdg.1_Silent_p.L133L|SYNRG_uc002hob.2_Silent_p.L133L|SYNRG_uc002hog.1_Silent_p.L166L|SYNRG_uc010wdh.1_Silent_p.L133L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	133	Potential.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CTTCTTCTAAGAGTTTTTGCT	0.368000												
CWC25	54883	broad.mit.edu	37	17	36977249	36977249	+	Silent	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:36977249A>C	uc002hqu.2	-	2	249	c.96T>G	c.(94-96)GCT>GCG	p.A32A	CWC25_uc010wdv.1_5'UTR|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	32	Potential.										0						TCTTCCGCTCAGCCTCATGCT	0.547000												
EPN3	55040	broad.mit.edu	37	17	48618642	48618642	+	Silent	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:48618642C>A	uc002ira.3	+	8	1737	c.1302C>A	c.(1300-1302)ACC>ACA	p.T434T	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Silent_p.T462T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.T407T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	434						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCACAGAGACCAAGGAGGGGC	0.612000												
EPB41L3	23136	broad.mit.edu	37	18	5489118	5489118	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:5489118G>A	uc002kmt.1	-	2	151	c.65C>T	c.(64-66)GCG>GTG	p.A22V	EPB41L3_uc010wzh.1_Missense_Mutation_p.A22V|EPB41L3_uc002kmu.1_Missense_Mutation_p.A22V|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.A44V|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	22					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						cgcccccgccgccTCCTGGGG	0.517000												
LAMA1	284217	broad.mit.edu	37	18	7017344	7017344	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:7017344C>T	uc002knm.2	-	20	2835	c.2741G>A	c.(2740-2742)TGC>TAC	p.C914Y	LAMA1_uc010wzj.1_Missense_Mutation_p.C390Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	914	Laminin EGF-like 9.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAAGATGGCACACGGCAGA	0.478000												
ASXL3	80816	broad.mit.edu	37	18	31323104	31323104	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:31323104A>C	uc010dmg.1	+	12	3347	c.3292A>C	c.(3292-3294)ACT>CCT	p.T1098P	ASXL3_uc002kxq.2_Missense_Mutation_p.T805P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1098					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAAGACGAGAACTCTGGCACA	0.572000												
CBLN2	147381	broad.mit.edu	37	18	70209211	70209211	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:70209211C>T	uc002lku.2	-	2	420	c.185G>A	c.(184-186)GGC>GAC	p.G62D	CBLN2_uc002lkv.2_Missense_Mutation_p.G62D	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	62						integral to membrane					0		Esophageal squamous(42;0.131)				CAGGCACTTGCCCTCCAGCAC	0.716000												
ZNF536	9745	broad.mit.edu	37	19	30935982	30935982	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:30935982C>T	uc002nsu.1	+	2	1651	c.1513C>T	c.(1513-1515)CGG>TGG	p.R505W	ZNF536_uc010edd.1_Missense_Mutation_p.R505W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	505					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)					CTGCATCGAGCGGCTGCAGGC	0.647000												
FFAR2	2867	broad.mit.edu	37	19	35941123	35941123	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:35941123C>T	uc002nzg.2	+	2	587	c.507C>T	c.(505-507)ACC>ACT	p.T169T	FFAR2_uc010eea.2_Silent_p.T169T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	169	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGAACTTCACCGATAACCAGT	0.522000												
ZNF568	374900	broad.mit.edu	37	19	37441191	37441191	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:37441191T>C	uc002ofc.2	+	7	1651	c.1136T>C	c.(1135-1137)CTA>CCA	p.L379P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.L303P|ZNF568_uc010efe.2_Missense_Mutation_p.L303P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	379	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTTACGCTACATATGAGA	0.358000												
SNRPA	6626	broad.mit.edu	37	19	41263268	41263268	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:41263268C>T	uc002ooz.2	+	2	640	c.105C>T	c.(103-105)TCC>TCT	p.S35S	SNRPA_uc002opa.2_5'UTR	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	35	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCATCTTCTCCCAGTTTGGCC	0.527000												
ZFP112	7771	broad.mit.edu	37	19	44832192	44832192	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:44832192C>G	uc010ejj.2	-	5	2249	c.2136G>C	c.(2134-2136)CAG>CAC	p.Q712H	ZFP112_uc002ozc.3_Missense_Mutation_p.Q706H|ZFP112_uc010xwy.1_Missense_Mutation_p.Q729H|ZFP112_uc010xwz.1_Missense_Mutation_p.Q711H	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	712	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AATGGACACTCTGATGACTCT	0.463000												
FTL	2512	broad.mit.edu	37	19	49469092	49469092	+	Silent	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:49469092C>G	uc002plo.2	+	2	367	c.168C>G	c.(166-168)GCC>GCG	p.A56A	FTL_uc002pln.1_Silent_p.A56A	NM_000146	NP_000137	P02792	FRIL_HUMAN	ferritin, light polypeptide	56	Ferritin-like diiron.|Catalytic site for iron oxidation.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GCGAATTGGCCGAGGAGAAGC	0.572000												
ZNF614	80110	broad.mit.edu	37	19	52519689	52519689	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:52519689C>T	uc002pyj.2	-	5	1564	c.1162G>A	c.(1162-1164)GTA>ATA	p.V388I	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.V91I	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGCTGATGTACAATGAGATTG	0.443000												
ZNF320	162967	broad.mit.edu	37	19	53384221	53384221	+	Silent	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:53384221T>A	uc002qag.2	-	4	1349	c.1158A>T	c.(1156-1158)ACA>ACT	p.T386T	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.T332T|ZNF320_uc002qai.2_Silent_p.T386T	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	386	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATTCATTACATGTGTAAGGTC	0.403000												
ZNF665	79788	broad.mit.edu	37	19	53668541	53668541	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:53668541G>A	uc010eqm.1	-	4	1302	c.1202C>T	c.(1201-1203)CCT>CTT	p.P401L		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		ACATTTGAAAGGCTTTTCTCC	0.393000												
CACNG8	59283	broad.mit.edu	37	19	54483128	54483128	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:54483128C>T	uc002qcs.1	+	3	478	c.372C>T	c.(370-372)GTC>GTT	p.V124V	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	125					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CAGGAGTTGTCCGGGCCTCCA	0.682000												
PEG3	5178	broad.mit.edu	37	19	57325987	57325987	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:57325987T>C	uc002qnu.2	-	7	4174	c.3823A>G	c.(3823-3825)AGT>GGT	p.S1275G	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S1246G|PEG3_uc002qnv.2_Missense_Mutation_p.S1275G|PEG3_uc002qnw.2_Missense_Mutation_p.S1151G|PEG3_uc002qnx.2_Missense_Mutation_p.S1149G|PEG3_uc010etr.2_Missense_Mutation_p.S1275G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1275					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGGTCTGACTTCTCTGAAAC	0.463000												
ZNF549	256051	broad.mit.edu	37	19	58048765	58048765	+	Silent	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:58048765T>G	uc002qpb.1	+	4	642	c.393T>G	c.(391-393)CCT>CCG	p.P131P	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Silent_p.P118P	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	131	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCAGAAACCTTATACGTCTG	0.468000												
ZNF549	256051	broad.mit.edu	37	19	58048993	58048993	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:58048993A>T	uc002qpb.1	+	4	870	c.621A>T	c.(619-621)CAA>CAT	p.Q207H	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.Q194H	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGCAGACAAGAGTATGCAC	0.438000												
FSHR	2492	broad.mit.edu	37	2	49217713	49217713	+	Missense_Mutation	SNP	T	T	A	rs1126715		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:49217713T>A	uc002rww.2	-	5	512	c.438A>T	c.(436-438)AAA>AAT	p.K146N	FSHR_uc002rwx.2_Missense_Mutation_p.K146N|FSHR_uc010fbn.2_Missense_Mutation_p.K146N|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	146	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACAGTAAAACTTTTTGGAGAG	0.373000									Gonadal_Dysgenesis_46_XX			
RTN4	57142	broad.mit.edu	37	2	55209688	55209688	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:55209688C>T	uc002rye.2	-	5	3621	c.3323G>A	c.(3322-3324)CGC>CAC	p.R1108H	RTN4_uc002ryc.2_Missense_Mutation_p.R115H|RTN4_uc002ryd.2_Missense_Mutation_p.R902H|RTN4_uc002ryf.2_Missense_Mutation_p.R308H|RTN4_uc002ryg.2_Missense_Mutation_p.R289H	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	1108	Lumenal (Potential).|Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TAAGAAGAGGCGCCTGAGTTC	0.378000												
DYSF	8291	broad.mit.edu	37	2	71795359	71795359	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:71795359T>A	uc002sie.2	+	26	3077	c.2701T>A	c.(2701-2703)TAC>AAC	p.Y901N	DYSF_uc010feg.2_Missense_Mutation_p.Y932N|DYSF_uc010feh.2_Missense_Mutation_p.Y887N|DYSF_uc002sig.3_Missense_Mutation_p.Y887N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Y901N|DYSF_uc010fef.2_Missense_Mutation_p.Y918N|DYSF_uc010fei.2_Missense_Mutation_p.Y918N|DYSF_uc010fek.2_Missense_Mutation_p.Y919N|DYSF_uc010fej.2_Missense_Mutation_p.Y888N|DYSF_uc010fel.2_Missense_Mutation_p.Y888N|DYSF_uc010feo.2_Missense_Mutation_p.Y933N|DYSF_uc010fem.2_Missense_Mutation_p.Y902N|DYSF_uc010fen.2_Missense_Mutation_p.Y919N|DYSF_uc002sif.2_Missense_Mutation_p.Y902N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	901	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGGCCTCACCTACCCCAAGTT	0.607000												
LOXL3	84695	broad.mit.edu	37	2	74777399	74777399	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:74777399C>T	uc002smp.1	-	3	462	c.390G>A	c.(388-390)GGG>GGA	p.G130G	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.G130G|LOXL3_uc002smq.1_Silent_p.G130G|LOXL3_uc010ffn.1_Silent_p.G130G|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	130	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGTCACTGTTCCCCCAGCCCC	0.587000												
TGFBRAP1	9392	broad.mit.edu	37	2	105889361	105889361	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:105889361C>T	uc002tcq.2	-	10	2007	c.1923G>A	c.(1921-1923)CTG>CTA	p.L641L	TGFBRAP1_uc010fjc.2_Silent_p.L410L|TGFBRAP1_uc002tcr.3_Silent_p.L641L	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	641					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						GCAGCCGCCGCAGCTTGGCCT	0.547000												
TTL	150465	broad.mit.edu	37	2	113286266	113286266	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:113286266A>G	uc002thu.2	+	7	1207	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C	TTL_uc010fkm.1_Intron	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	343	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGGAAGCTCTATGCAGAACTG	0.383000			T	ETV6	ALL							
MARCO	8685	broad.mit.edu	37	2	119739960	119739960	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:119739960G>T	uc002tln.1	+	12	1169	c.1037G>T	c.(1036-1038)GGC>GTC	p.G346V	MARCO_uc010yyf.1_Missense_Mutation_p.G268V	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	346	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGAGCCACAGGCCTGAAAGGA	0.567000												
ORC4L	5000	broad.mit.edu	37	2	148705692	148705692	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:148705692A>C	uc002twi.2	-	9	825	c.690T>G	c.(688-690)TTT>TTG	p.F230L	ORC4L_uc002twj.2_Missense_Mutation_p.F230L|ORC4L_uc010zbo.1_Missense_Mutation_p.F156L|ORC4L_uc010zbp.1_Missense_Mutation_p.F13L|ORC4L_uc010fnr.2_Missense_Mutation_p.F230L|ORC4L_uc010zbq.1_Missense_Mutation_p.F146L|ORC4L_uc002twk.2_Missense_Mutation_p.F230L|ORC4L_uc010zbr.1_Missense_Mutation_p.F230L	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	230					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		ACTGTTCTTTAAATATTTTAA	0.328000												
EPC2	26122	broad.mit.edu	37	2	149526718	149526718	+	Splice_Site	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:149526718A>G	uc010zbt.1	+	8	1168	c.1141_splice	c.e8-2	p.V381_splice		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCTTTTGTCTAGGTATTGTCC	0.383000												
SCN3A	6328	broad.mit.edu	37	2	165950892	165950892	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:165950892G>A	uc002ucx.2	-	26	5020	c.4528C>T	c.(4528-4530)CGC>TGC	p.R1510C	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.R1461C|SCN3A_uc002ucz.2_Missense_Mutation_p.R1461C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1510						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ACTGCTGGGCGAGGTATGGGT	0.393000												
XIRP2	129446	broad.mit.edu	37	2	167760240	167760240	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:167760240A>T	uc002udx.2	+	1	266	c.248A>T	c.(247-249)AAG>ATG	p.K83M	XIRP2_uc010fpn.2_Missense_Mutation_p.K83M|XIRP2_uc010fpo.2_Missense_Mutation_p.K83M|XIRP2_uc010fpp.2_Missense_Mutation_p.K83M	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCTGTGGACAAGAGTAACAAC	0.512000												
TTN	7273	broad.mit.edu	37	2	179400404	179400404	+	Silent	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:179400404G>C	uc010zfg.1	-	307	93458	c.93234C>G	c.(93232-93234)GTC>GTG	p.V31078V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V24773V|TTN_uc010zfi.1_Silent_p.V24706V|TTN_uc010zfj.1_Silent_p.V24581V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATCTTGTGACAATAACTT	0.418000												
PGAP1	80055	broad.mit.edu	37	2	197757109	197757109	+	Silent	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:197757109A>G	uc002utw.2	-	9	1164	c.1050T>C	c.(1048-1050)GTT>GTC	p.V350V	PGAP1_uc002utx.2_Silent_p.V176V|PGAP1_uc002uty.1_Silent_p.V350V|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	350	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						CTTTTACTAGAACCCACATAG	0.279000												
MAP2	4133	broad.mit.edu	37	2	210559045	210559045	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:210559045C>G	uc002vde.1	+	7	2399	c.2151C>G	c.(2149-2151)AAC>AAG	p.N717K	MAP2_uc002vdc.1_Missense_Mutation_p.N717K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.N713K	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	717					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTGGATTTAACTTTGGTCGGG	0.458000												
VIL1	7429	broad.mit.edu	37	2	219297563	219297563	+	Silent	SNP	C	C	T	rs139447471		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:219297563C>T	uc002via.2	+	13	1454	c.1389C>T	c.(1387-1389)GCC>GCT	p.A463A	VIL1_uc010zke.1_Silent_p.A152A|VIL1_uc002vib.2_Silent_p.A463A	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	463	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTATCAAGCCGTCATCCTGG	0.552000												
PLCB1	23236	broad.mit.edu	37	20	8719977	8719977	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:8719977C>T	uc002wnb.2	+	21	2281	c.2278C>T	c.(2278-2280)CGT>TGT	p.R760C	PLCB1_uc010zrb.1_Missense_Mutation_p.R659C|PLCB1_uc002wna.2_Missense_Mutation_p.R760C|PLCB1_uc002wnc.1_Missense_Mutation_p.R659C|PLCB1_uc002wnd.1_Missense_Mutation_p.R337C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	760	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CATTGGCCACCGTATCTTGCC	0.413000												
C20orf26	26074	broad.mit.edu	37	20	20054980	20054980	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:20054980C>T	uc002wru.2	+	4	405	c.329C>T	c.(328-330)GCC>GTC	p.A110V	C20orf26_uc010gcw.1_Missense_Mutation_p.A64V|C20orf26_uc010zse.1_Missense_Mutation_p.A110V|C20orf26_uc010zsf.1_Missense_Mutation_p.A110V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	110										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CTCTTTGTGGCCGTGGATGAG	0.488000												
SLC35C2	51006	broad.mit.edu	37	20	44983860	44983860	+	Silent	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:44983860C>G	uc002xro.2	-	6	970	c.429G>C	c.(427-429)GTG>GTC	p.V143V	SLC35C2_uc002xrp.2_Intron|SLC35C2_uc002xrq.2_Silent_p.V143V|SLC35C2_uc002xrr.2_Silent_p.V143V|SLC35C2_uc010zxn.1_Intron|SLC35C2_uc010zxo.1_Silent_p.V29V|SLC35C2_uc010zxp.1_Silent_p.V172V	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	143	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TGAGGAGGACCACCAGGACCA	0.612000												
CBLN4	140689	broad.mit.edu	37	20	54573661	54573661	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:54573661T>C	uc002xxa.2	-	3	1343	c.558A>G	c.(556-558)GGA>GGG	p.G186G		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	186	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			ACTGCCAGCCTCCAACCAAAT	0.458000												
GAB4	128954	broad.mit.edu	37	22	17473066	17473066	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr22:17473066C>G	uc002zlw.2	-	2	283	c.175G>C	c.(175-177)GCC>CCC	p.A59P	GAB4_uc010gqs.1_Missense_Mutation_p.A59P	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	59	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TTCCTCCAGGCCTAAGGAAGG	0.493000												
FBLN1	2192	broad.mit.edu	37	22	45928994	45928994	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr22:45928994G>T	uc003bgj.1	+	6	743	c.596G>T	c.(595-597)TGC>TTC	p.C199F	FBLN1_uc003bgg.1_Missense_Mutation_p.C199F|FBLN1_uc003bgh.2_Missense_Mutation_p.C199F|FBLN1_uc010gzz.2_Missense_Mutation_p.C237F|FBLN1_uc003bgi.1_Missense_Mutation_p.C199F	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	199	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGGTGGTCTGCTCCTGCTTC	0.637000												
CHL1	10752	broad.mit.edu	37	3	431150	431150	+	Silent	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:431150A>T	uc003bou.2	+	19	2686	c.2415A>T	c.(2413-2415)GGA>GGT	p.G805G	CHL1_uc003bot.2_Silent_p.G821G|CHL1_uc003bow.1_Silent_p.G805G|CHL1_uc011asi.1_Silent_p.G821G	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	805	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTATTCTGGAGAAGACTGTA	0.383000												
CNTN4	152330	broad.mit.edu	37	3	3030113	3030113	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:3030113C>A	uc003bpc.2	+	13	1664	c.1443C>A	c.(1441-1443)AAC>AAA	p.N481K	CNTN4_uc003bpb.1_Missense_Mutation_p.N153K|CNTN4_uc003bpd.1_Missense_Mutation_p.N481K|CNTN4_uc003bpe.2_Missense_Mutation_p.N153K|CNTN4_uc003bpf.2_Missense_Mutation_p.N153K	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	481	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TAGCCACTAACCATTTTGGAA	0.363000												
ZNF167	55888	broad.mit.edu	37	3	44607107	44607107	+	Silent	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:44607107T>A	uc010hin.2	+	3	940	c.552T>A	c.(550-552)CCT>CCA	p.P184P	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.P184P|ZNF167_uc010hio.2_Silent_p.P34P|ZNF167_uc003cnj.2_Silent_p.P184P|ZNF167_uc003cnk.2_Silent_p.P184P	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	184					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGGAGCCTCCTTATGACCCAG	0.577000												
VGLL3	389136	broad.mit.edu	37	3	87027822	87027822	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:87027822G>C	uc003dqn.2	-	2	621	c.257C>G	c.(256-258)TCT>TGT	p.S86C		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GACACAGCGAGAGTTAAGGTA	0.413000												
SIDT1	54847	broad.mit.edu	37	3	113338548	113338548	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:113338548G>C	uc003eak.2	+	21	2716	c.2065G>C	c.(2065-2067)GTG>CTG	p.V689L	SIDT1_uc011big.1_Missense_Mutation_p.V442L|SIDT1_uc011bii.1_Missense_Mutation_p.V142L	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	689	Helical; (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GTTGCTGGTTGTGGGGAATCT	0.383000												
B4GALT4	8702	broad.mit.edu	37	3	118931416	118931416	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:118931416C>G	uc003ecg.2	-	8	1656	c.1015G>C	c.(1015-1017)GAT>CAT	p.D339H	B4GALT4_uc003ece.1_3'UTR|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.D339H|B4GALT4_uc003eci.2_Missense_Mutation_p.D339H	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	339	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AACCAGAAATCCACTGTGATG	0.388000												
EAF2	55840	broad.mit.edu	37	3	121554150	121554150	+	Silent	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:121554150A>C	uc003een.2	+	1	117	c.18A>C	c.(16-18)GGA>GGC	p.G6G	IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	6					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		GCGCAGCGGGATTCTCACACC	0.567000												
STAG1	10274	broad.mit.edu	37	3	136141289	136141290	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:136141289_136141290TC>CA	uc003era.1	-	19	2291_2292	c.1999_2000GA>TG	c.(1999-2001)GAT>TGT	p.D667C	STAG1_uc003erb.1_Missense_Mutation_p.D667C|STAG1_uc003erc.1_Missense_Mutation_p.D441C|STAG1_uc010hua.1_Missense_Mutation_p.D530C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	667					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ATTGAATCGATCTACAAACTCA	0.361000												
SI	6476	broad.mit.edu	37	3	164735642	164735642	+	Silent	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:164735642A>C	uc003fei.2	-	30	3602	c.3540T>G	c.(3538-3540)ACT>ACG	p.T1180T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1180	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGAGCAGGAGTTGGCTGGA	0.358000										HNSCC(35;0.089)		
SI	6476	broad.mit.edu	37	3	164764774	164764774	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:164764774T>G	uc003fei.2	-	16	1804	c.1742A>C	c.(1741-1743)AAG>ACG	p.K581T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	581	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGCTTCTCTTATTAGGAAA	0.313000										HNSCC(35;0.089)		
ZBBX	79740	broad.mit.edu	37	3	166960393	166960393	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:166960393A>C	uc003fep.2	-	20	2499	c.2176T>G	c.(2176-2178)TTC>GTC	p.F726V	ZBBX_uc011bpc.1_Missense_Mutation_p.F765V|ZBBX_uc003feq.2_Missense_Mutation_p.F697V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	726						intracellular	zinc ion binding			ovary(2)	2						AAATCTGGGAACTCTTCTGAG	0.363000												
SERPINI2	5276	broad.mit.edu	37	3	167159899	167159899	+	Nonstop_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:167159899A>G	uc003fer.1	-	8	1274	c.1216T>C	c.(1216-1218)TGA>CGA	p.*406R	SERPINI2_uc003fes.1_Nonstop_Mutation_p.*416R|SERPINI2_uc003fet.1_Nonstop_Mutation_p.*406R	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	406					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						CTTTTCATTCACAGTGAATCT	0.323000												
GRK4	2868	broad.mit.edu	37	4	3015511	3015511	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:3015511C>T	uc003ggn.1	+	8	1152	c.697C>T	c.(697-699)CTA>TTA	p.L233L	GRK4_uc003ggo.1_Silent_p.L233L|GRK4_uc003ggp.1_Silent_p.L201L|GRK4_uc003ggq.1_Silent_p.L201L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	233	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTATGGCTCTAAATGAGAA	0.393000												
TLR10	81793	broad.mit.edu	37	4	38774898	38774898	+	Nonsense_Mutation	SNP	G	G	A	rs145139818	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:38774898G>A	uc003gti.2	-	2	2693	c.2314C>T	c.(2314-2316)CGA>TGA	p.R772*	TLR10_uc003gtj.2_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.2_Nonsense_Mutation_p.R772*	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	772	TIR.|Cytoplasmic (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATAGCAGCTCGAAGGTTTGCC	0.418000												
ATP8A1	10396	broad.mit.edu	37	4	42524204	42524204	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:42524204G>A	uc003gwr.2	-	22	2152	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L	ATP8A1_uc003gws.2_Silent_p.L625L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	640	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	AACTCTCTTCGAGTTTGAGTA	0.428000												
FRYL	285527	broad.mit.edu	37	4	48611786	48611786	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:48611786A>T	uc003gyh.1	-	8	1071	c.466T>A	c.(466-468)TTT>ATT	p.F156I	FRYL_uc003gyk.2_Missense_Mutation_p.F156I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AAGTGCTTAAAAGCTAAGTTT	0.313000												
LNX1	84708	broad.mit.edu	37	4	54364820	54364820	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:54364820G>T	uc003hag.3	-	5	1222	c.966C>A	c.(964-966)GAC>GAA	p.D322E	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.D226E|LNX1_uc003hah.3_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	322	PDZ 1.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTAGAATGATGTCTCCTGGCA	0.493000												
TECRL	253017	broad.mit.edu	37	4	65275058	65275058	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:65275058C>A	uc003hcv.2	-	1	121	c.12G>T	c.(10-12)AGG>AGT	p.R4S	TECRL_uc003hcw.2_Missense_Mutation_p.R4S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	4					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGGACTTGTGCCTTTTGAACA	0.408000												
EPHA5	2044	broad.mit.edu	37	4	66286191	66286191	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:66286191T>C	uc003hcy.2	-	6	1688	c.1495A>G	c.(1495-1497)ATC>GTC	p.I499V	EPHA5_uc003hcx.2_Missense_Mutation_p.I430V|EPHA5_uc003hcz.2_Missense_Mutation_p.I499V|EPHA5_uc011cah.1_Missense_Mutation_p.I499V|EPHA5_uc011cai.1_Missense_Mutation_p.I499V|EPHA5_uc003hda.2_Missense_Mutation_p.I499V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	499	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TACTCTAGGATGATTCCATTG	0.343000										TSP Lung(17;0.13)		
TMPRSS11B	132724	broad.mit.edu	37	4	69094501	69094501	+	Silent	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:69094501A>G	uc003hdw.3	-	9	1184	c.1048T>C	c.(1048-1050)TTA>CTA	p.L350L		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	350	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAGCACATAACATTGTATCA	0.348000												
LIN54	132660	broad.mit.edu	37	4	83852254	83852254	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:83852254C>A	uc003hnx.3	-	12	2268	c.1890G>T	c.(1888-1890)AAG>AAT	p.K630N	LIN54_uc003hnz.3_Missense_Mutation_p.K409N|LIN54_uc003hny.3_Missense_Mutation_p.K229N|LIN54_uc010ijt.2_Missense_Mutation_p.K541N|LIN54_uc010iju.2_Missense_Mutation_p.K229N|LIN54_uc010ijv.2_Missense_Mutation_p.K409N	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	630	CXC 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CTTCAAAATTCTTACAGCCAA	0.353000												
NDST4	64579	broad.mit.edu	37	4	115891689	115891689	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:115891689T>A	uc003ibu.2	-	4	1797	c.1118A>T	c.(1117-1119)GAG>GTG	p.E373V	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	373	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCACCAGAACTCATCCACAGA	0.403000												
BBS7	55212	broad.mit.edu	37	4	122754433	122754433	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:122754433A>C	uc003ied.2	-	15	1803	c.1629T>G	c.(1627-1629)TTT>TTG	p.F543L	BBS7_uc003iee.1_Missense_Mutation_p.F543L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	543					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						TCTGAAAGTAAAATGTCACAC	0.388000									Bardet-Biedl_syndrome			
GLRB	2743	broad.mit.edu	37	4	158060078	158060078	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:158060078G>C	uc003ipj.2	+	7	930	c.728G>C	c.(727-729)TGT>TCT	p.C243S		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	243	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATGGTAACTGTACAAAATAC	0.313000												
GRIA2	2891	broad.mit.edu	37	4	158257859	158257859	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:158257859T>G	uc003ipm.3	+	11	2263	c.1804T>G	c.(1804-1806)TTG>GTG	p.L602V	GRIA2_uc011cit.1_Missense_Mutation_p.L555V|GRIA2_uc003ipl.3_Missense_Mutation_p.L602V|GRIA2_uc003ipk.3_Missense_Mutation_p.L555V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	602	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGGTTTTCCTTGGGTGCCTT	0.433000												
TRIO	7204	broad.mit.edu	37	5	14291233	14291233	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:14291233C>T	uc003jff.2	+	5	955	c.949C>T	c.(949-951)CGG>TGG	p.R317W	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R268W|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	317	Spectrin 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CATGCTGGACCGGCTGCACTC	0.552000												
PDZD2	23037	broad.mit.edu	37	5	31983689	31983689	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:31983689C>A	uc003jhl.2	+	3	1293	c.905C>A	c.(904-906)ACC>AAC	p.T302N	PDZD2_uc003jhm.2_Missense_Mutation_p.T302N|PDZD2_uc011cnx.1_Missense_Mutation_p.T128N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	302					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCTCCTCTGACCACAAGCAAT	0.517000												
SPEF2	79925	broad.mit.edu	37	5	35646909	35646909	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:35646909A>C	uc003jjo.2	+	5	837	c.726A>C	c.(724-726)GAA>GAC	p.E242D	SPEF2_uc003jjn.1_Missense_Mutation_p.E242D|SPEF2_uc003jjq.3_Missense_Mutation_p.E242D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	242	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAGGCAGAAGTAAGTGATA	0.343000												
C5orf33	133686	broad.mit.edu	37	5	36197731	36197731	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:36197731G>T	uc003jkf.3	-	11	1102	c.1102C>A	c.(1102-1104)CCG>ACG	p.P368T	C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.P173T|C5orf33_uc003jkg.3_Missense_Mutation_p.P205T|C5orf33_uc011cov.1_Missense_Mutation_p.P227T	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	368							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTTCTTCCGGACTGTAGAGC	0.358000												
EGFLAM	133584	broad.mit.edu	37	5	38448449	38448449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:38448449C>A	uc003jlc.1	+	19	2859	c.2535C>A	c.(2533-2535)TAC>TAA	p.Y845*	EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Y837*|EGFLAM_uc003jle.1_Nonsense_Mutation_p.Y603*|EGFLAM_uc003jlf.1_Nonsense_Mutation_p.Y203*|EGFLAM_uc003jlg.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	845	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GCCGCAGTTACCTGACGTATG	0.463000												
FYB	2533	broad.mit.edu	37	5	39201957	39201957	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:39201957G>A	uc003jls.2	-	1	1173	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	FYB_uc003jlt.2_Missense_Mutation_p.T369M|FYB_uc003jlu.2_Missense_Mutation_p.T369M|FYB_uc011cpl.1_Missense_Mutation_p.T379M	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	369	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			GTGGAATTTCGTCAGGTCAAC	0.458000												
ENC1	8507	broad.mit.edu	37	5	73930697	73930697	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:73930697G>T	uc003kdc.3	-	2	2745	c.1614C>A	c.(1612-1614)AAC>AAA	p.N538K	ENC1_uc011css.1_Missense_Mutation_p.N465K	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	538	Kelch 5.			YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CGTAGAGTTTGTTTCCAGAGG	0.498000												
IQGAP2	10788	broad.mit.edu	37	5	75932871	75932871	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:75932871G>C	uc003kek.2	+	16	2015	c.1793G>C	c.(1792-1794)GGT>GCT	p.G598A	IQGAP2_uc010izv.2_Missense_Mutation_p.G151A|IQGAP2_uc011csv.1_Missense_Mutation_p.G151A|IQGAP2_uc003kel.2_Missense_Mutation_p.G151A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	598	WW.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCTAGTGACGGTTCATGGCTC	0.328000												
KIF3A	11127	broad.mit.edu	37	5	132056402	132056402	+	Missense_Mutation	SNP	T	T	C	rs17854353		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:132056402T>C	uc003kxo.2	-	5	669	c.515A>G	c.(514-516)AAA>AGA	p.K172R	KIF3A_uc003kxn.2_Missense_Mutation_p.K131R|KIF3A_uc011cxf.1_Missense_Mutation_p.K172R|KIF3A_uc003kxp.2_Missense_Mutation_p.K172R	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	172	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCTTTCTTTAACCTAAAA	0.209000												
FBXL21	26223	broad.mit.edu	37	5	135276293	135276293	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:135276293A>G	uc010jec.1	+	4	626	c.605A>G	c.(604-606)AAT>AGT	p.N202S	FBXL21_uc003lbc.2_RNA	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	202	LRR 2.				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCCAATAATAGTGACACT	0.328000												
ETF1	2107	broad.mit.edu	37	5	137854434	137854434	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:137854434G>A	uc003ldc.3	-	3	374	c.209C>T	c.(208-210)TCA>TTA	p.S70L	ETF1_uc011cyv.1_Missense_Mutation_p.S56L|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S37L|ETF1_uc010jey.1_5'Flank	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	70					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCAGGACTGAAAGGCGGTT	0.403000												
PCDHGB4	8641	broad.mit.edu	37	5	140769109	140769109	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:140769109G>A	uc003lkc.1	+	1	1658	c.1658G>A	c.(1657-1659)CGC>CAC	p.R553H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R553H	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	553	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			GTGGACGACCGCAACGACAAT	0.677000												
GLRA1	2741	broad.mit.edu	37	5	151234726	151234726	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:151234726A>G	uc003lut.2	-	6	859	c.572T>C	c.(571-573)ATG>ACG	p.M191T	GLRA1_uc003lur.2_Missense_Mutation_p.M191T|GLRA1_uc003lus.2_Missense_Mutation_p.M108T	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	191	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGGTCATTCATCGTATATCC	0.483000												
FAM71B	153745	broad.mit.edu	37	5	156590152	156590152	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:156590152G>A	uc003lwn.2	-	2	1224	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTGCAAACGCCGCACTCAA	0.582000												
ITK	3702	broad.mit.edu	37	5	156635914	156635914	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:156635914G>A	uc003lwo.1	+	2	235	c.153G>A	c.(151-153)CTG>CTA	p.L51L		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	51	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L51Q(1)		lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCGCACGCTGAAGGGGTCCA	0.428000			T	SYK	peripheral T-cell lymphoma							
OR2B2	81697	broad.mit.edu	37	6	27879098	27879098	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:27879098A>C	uc011dkw.1	-	1	1000	c.1000T>G	c.(1000-1002)TTC>GTC	p.F334V		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTGCGGAGAAGTTAGTAAGG	0.318000												
MDC1	9656	broad.mit.edu	37	6	30680770	30680770	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:30680770G>A	uc003nrg.3	-	5	1389	c.949C>T	c.(949-951)CAT>TAT	p.H317Y	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.H189Y|MDC1_uc003nrh.1_Missense_Mutation_p.H189Y|MDC1_uc003nri.2_Missense_Mutation_p.H317Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	317	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTTTCCAAATGGACCTCAGCT	0.547000								Other_conserved_DNA_damage_response_genes				
USP49	25862	broad.mit.edu	37	6	41774582	41774582	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:41774582C>A	uc003ori.2	-	4	362	c.140G>T	c.(139-141)GGC>GTC	p.G47V		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	47	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AATATAGCGGCCGCAGGCCAC	0.592000												
KLHDC3	116138	broad.mit.edu	37	6	42987057	42987057	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:42987057C>T	uc003otl.2	+	10	1204	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.A321A|KLHDC3_uc003otn.2_Silent_p.A229A|KLHDC3_uc003oto.2_Silent_p.A286A	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	345					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAAACTGGCCGTGATTCAGT	0.498000												
FILIP1	27145	broad.mit.edu	37	6	76072590	76072590	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:76072590T>G	uc003pia.2	-	3	693	c.320A>C	c.(319-321)AAG>ACG	p.K107T	FILIP1_uc003phy.1_Missense_Mutation_p.K107T|FILIP1_uc003phz.2_Missense_Mutation_p.K8T|FILIP1_uc010kbe.2_Missense_Mutation_p.K110T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	107										skin(3)|ovary(1)	4						AACCTCAGGCTTGGTTTTCTC	0.512000												
LAMA4	3910	broad.mit.edu	37	6	112460964	112460964	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:112460964G>A	uc003pvu.2	-	23	3409	c.3100C>T	c.(3100-3102)CCA>TCA	p.P1034S	LAMA4_uc003pvv.2_Missense_Mutation_p.P1027S|LAMA4_uc003pvt.2_Missense_Mutation_p.P1027S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1034	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGGGCACATGGCACTGATGTG	0.423000												
ROS1	6098	broad.mit.edu	37	6	117632273	117632273	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:117632273C>T	uc003pxp.1	-	39	6342	c.6143G>A	c.(6142-6144)GGT>GAT	p.G2048D	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2048	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGTAAAGGACCATAAAACTG	0.284000			T	GOPC|ROS1	glioblastoma|NSCLC							
UTRN	7402	broad.mit.edu	37	6	145073047	145073047	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:145073047C>T	uc003qkt.2	+	55	8406	c.8314C>T	c.(8314-8316)CGC>TGC	p.R2772C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2772	Spectrin 20.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAGATGTCTCGCCAGCTAGA	0.413000												
GRM1	2911	broad.mit.edu	37	6	146350944	146350944	+	Silent	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:146350944C>A	uc010khw.1	+	2	761	c.291C>A	c.(289-291)CCC>CCA	p.P97P	GRM1_uc010khu.1_Silent_p.P97P|GRM1_uc010khv.1_Silent_p.P97P|GRM1_uc003qll.2_Silent_p.P97P|GRM1_uc011edz.1_Silent_p.P97P|GRM1_uc011eea.1_Silent_p.P97P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	97	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCTCCTGCCCAACATCACCC	0.562000												
SYNE1	23345	broad.mit.edu	37	6	152804313	152804313	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:152804313G>A	uc010kiw.2	-	14	1859	c.1257C>T	c.(1255-1257)TAC>TAT	p.Y419Y	SYNE1_uc003qot.3_Silent_p.Y426Y|SYNE1_uc003qou.3_Silent_p.Y419Y|SYNE1_uc010kjb.1_Silent_p.Y402Y|SYNE1_uc003qpa.1_Silent_p.Y419Y|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	419	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCGCTCTGTACAGCCAGG	0.438000										HNSCC(10;0.0054)		
TAGAP	117289	broad.mit.edu	37	6	159457507	159457507	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:159457507G>T	uc003qrz.2	-	10	1880	c.1548C>A	c.(1546-1548)CAC>CAA	p.H516Q	TAGAP_uc011eft.1_Missense_Mutation_p.H453Q|TAGAP_uc003qsa.2_Missense_Mutation_p.H338Q	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACTTTTTTGTGAGGGGCAA	0.498000												
SLC22A2	6582	broad.mit.edu	37	6	160679467	160679467	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:160679467G>T	uc003qtf.2	-	1	493	c.323C>A	c.(322-324)GCC>GAC	p.A108D	SLC22A2_uc003qte.1_Missense_Mutation_p.A108D|SLC22A2_uc003qth.1_Missense_Mutation_p.A108D	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	108	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GTCCAGGCTGGCCAGGGGGTC	0.682000												
COL28A1	340267	broad.mit.edu	37	7	7572474	7572474	+	Silent	SNP	C	C	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:7572474C>G	uc003src.1	-	2	150	c.33G>C	c.(31-33)CTG>CTC	p.L11L	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	11					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGACAAAAGCAGGAGATAGA	0.353000												
STAG3L4	64940	broad.mit.edu	37	7	66773946	66773946	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:66773946G>T	uc003tvt.3	+	3	379	c.112G>T	c.(112-114)GCT>TCT	p.A38S	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	38											0		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCCTCTGACAGCTCCAGGTCT	0.493000												
ANKIB1	54467	broad.mit.edu	37	7	91972459	91972459	+	Silent	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:91972459A>T	uc003ulw.2	+	6	1285	c.909A>T	c.(907-909)CCA>CCT	p.P303P		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	303							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACACGCTCCCATCTCCAAGAA	0.502000												
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:103276725G>A	uc003vca.2	-	18	2420	c.2260C>T	c.(2260-2262)CGG>TGG	p.R754W	RELN_uc010liz.2_Missense_Mutation_p.R754W	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	754					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443000												
DLD	1738	broad.mit.edu	37	7	107542829	107542829	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:107542829T>G	uc003vet.2	+	4	368	c.258T>G	c.(256-258)ATT>ATG	p.I86M	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.I86M|DLD_uc011kmh.1_Intron|DLD_uc011kmi.1_Intron	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	86					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	TTGGTTGTATTCCTTCTAAGG	0.373000												
PNPLA8	50640	broad.mit.edu	37	7	108154736	108154736	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:108154736A>C	uc003vff.1	-	5	1465	c.1058T>G	c.(1057-1059)ATT>AGT	p.I353S	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.I353S|PNPLA8_uc003vfi.1_Missense_Mutation_p.I253S|PNPLA8_uc003vfj.1_Missense_Mutation_p.I353S|PNPLA8_uc003vfk.1_Missense_Mutation_p.I253S	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	353					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						CCTTGCGATAATCTACAAAGA	0.338000												
GRM8	2918	broad.mit.edu	37	7	126086390	126086390	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:126086390T>C	uc003vlr.2	-	9	2778	c.2467A>G	c.(2467-2469)AGT>GGT	p.S823G	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S823G|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	823	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCACTTAAACTCATGGAGACA	0.368000										HNSCC(24;0.065)		
OR2F2	135948	broad.mit.edu	37	7	143632632	143632632	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:143632632T>G	uc011ktv.1	+	1	307	c.307T>G	c.(307-309)TTC>GTC	p.F103V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F103F(1)		ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CCAGTTATTTTTCTCCCTGGC	0.542000												
OR2A2	442361	broad.mit.edu	37	7	143807484	143807484	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:143807484A>C	uc011ktz.1	+	1	809	c.809A>C	c.(808-810)GAG>GCG	p.E270A		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GAGGAGCAGGAGAAAATGCTG	0.512000												
SSPO	23145	broad.mit.edu	37	7	149480254	149480254	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:149480254C>T	uc010lpk.2	+	16	2136	c.2136C>T	c.(2134-2136)GCC>GCT	p.A712A	SSPO_uc010lpl.1_Silent_p.A47A	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	712	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACACCAGCCGGAGATGTGG	0.587000												
DNAJB6	10049	broad.mit.edu	37	7	157177590	157177590	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:157177590G>A	uc003wnk.2	+	7	662	c.508G>A	c.(508-510)GGG>AGG	p.G170R	DNAJB6_uc003wnj.2_Missense_Mutation_p.G170R|DNAJB6_uc003wnl.2_Missense_Mutation_p.G157R|DNAJB6_uc011kvy.1_Missense_Mutation_p.G121R|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.G170R	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	170	Gly/Phe-rich.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTAGGTCACGGGGGCCTCAC	0.378000												
POTEA	340441	broad.mit.edu	37	8	43171053	43171053	+	Silent	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:43171053A>G	uc003xpz.1	+	7	967	c.924A>G	c.(922-924)ACA>ACG	p.T308T	POTEA_uc003xqa.1_Silent_p.T262T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	308										ovary(1)	1						TAAAGCTGACATCAGAGGAAG	0.279000												
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:55540286C>T	uc003xsd.1	+	4	3992	c.3844C>T	c.(3844-3846)CCT>TCT	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1282					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTTTTTTTCCTAGTGATGG	0.408000												
MATN2	4147	broad.mit.edu	37	8	99006715	99006715	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:99006715C>A	uc003yic.2	+	7	1320	c.1089C>A	c.(1087-1089)GAC>GAA	p.D363E	MATN2_uc003yib.1_Missense_Mutation_p.D363E|MATN2_uc010mbh.1_Intron|MATN2_uc003yid.2_Missense_Mutation_p.D363E|MATN2_uc003yie.1_Missense_Mutation_p.D363E|MATN2_uc010mbi.1_Missense_Mutation_p.D196E	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	363	EGF-like 4.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAGAGATAGACTACTGTGCCT	0.428000												
ZFPM2	23414	broad.mit.edu	37	8	106573610	106573610	+	Silent	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:106573610G>A	uc003ymd.2	+	4	344	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	107					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGTGTTTCAGAAAGATGGGG	0.438000												
TMEM74	157753	broad.mit.edu	37	8	109796429	109796429	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:109796429G>A	uc003ymy.1	-	2	1004	c.899C>T	c.(898-900)GCG>GTG	p.A300V	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	300					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TACAGCAAGCGCATCTTCCTC	0.358000												
KCNV1	27012	broad.mit.edu	37	8	110986286	110986286	+	Missense_Mutation	SNP	C	C	T	rs143547134		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:110986286C>T	uc003ynr.3	-	1	674	c.332G>A	c.(331-333)CGA>CAA	p.R111Q	KCNV1_uc010mcw.2_Missense_Mutation_p.R111Q	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	111	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGGACATATCGGAACGCCTG	0.647000												
CSMD3	114788	broad.mit.edu	37	8	113249424	113249424	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:113249424A>G	uc003ynu.2	-	67	10781	c.10622T>C	c.(10621-10623)CTT>CCT	p.L3541P	CSMD3_uc003yns.2_Missense_Mutation_p.L2743P|CSMD3_uc003ynt.2_Missense_Mutation_p.L3501P|CSMD3_uc011lhx.1_Missense_Mutation_p.L3372P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3541	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATACCTGAAAGTAGCAGCTC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113349775	113349775	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:113349775C>T	uc003ynu.2	-	43	6997	c.6838G>A	c.(6838-6840)GAA>AAA	p.E2280K	CSMD3_uc003yns.2_Missense_Mutation_p.E1482K|CSMD3_uc003ynt.2_Missense_Mutation_p.E2240K|CSMD3_uc011lhx.1_Missense_Mutation_p.E2176K|CSMD3_uc003ynw.1_5'UTR	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2280	Extracellular (Potential).|Sushi 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGCATACCTTCACACCTTGGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TEK	7010	broad.mit.edu	37	9	27203086	27203086	+	Silent	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:27203086T>C	uc003zqi.3	+	13	2620	c.2178T>C	c.(2176-2178)TCT>TCC	p.S726S	TEK_uc011lno.1_Silent_p.S683S|TEK_uc011lnp.1_Silent_p.S579S|TEK_uc003zqj.1_Silent_p.S660S	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	726	Extracellular (Potential).|Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGCCTTTTCTCATGAACTGG	0.478000												
SPINK4	27290	broad.mit.edu	37	9	33246723	33246723	+	Missense_Mutation	SNP	G	G	A	rs140712741		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:33246723G>A	uc003zsh.2	+	3	223	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	71	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGCTTGGCCCGGATGTAAGTC	0.542000												
CA9	768	broad.mit.edu	37	9	35675761	35675761	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:35675761A>T	uc003zxo.3	+	3	479	c.437A>T	c.(436-438)GAC>GTC	p.D146V	C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.D146V	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	146	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCCAGGCGACCCGCCCTGG	0.711000												
MAMDC2	256691	broad.mit.edu	37	9	72785543	72785543	+	Silent	SNP	G	G	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:72785543G>C	uc004ahm.2	+	11	2264	c.1647G>C	c.(1645-1647)GGG>GGC	p.G549G	MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron|uc004ahp.1_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	549	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						ACACTACTGGGGTAGGTGAGT	0.453000												
FLJ46321	389763	broad.mit.edu	37	9	84605815	84605815	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:84605815C>A	uc004amn.2	+	4	477	c.430C>A	c.(430-432)CTG>ATG	p.L144M		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	144						integral to membrane					0						CCAGCAACTGCTGTCTTGGGA	0.557000												
SECISBP2	79048	broad.mit.edu	37	9	91954828	91954828	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:91954828G>A	uc004aqj.1	+	9	1342	c.1262G>A	c.(1261-1263)AGA>AAA	p.R421K	SECISBP2_uc011ltk.1_Missense_Mutation_p.R420K|SECISBP2_uc004aqk.1_Missense_Mutation_p.R348K|SECISBP2_uc010mqo.1_Missense_Mutation_p.R126K|SECISBP2_uc011ltl.1_Missense_Mutation_p.R353K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	421					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AGAAGAGACAGAATAGAGACA	0.403000												
PTCH1	5727	broad.mit.edu	37	9	98268846	98268846	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:98268846C>T	uc004avk.3	-	2	425	c.237G>A	c.(235-237)CTG>CTA	p.L79L	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.L13L|PTCH1_uc004avm.3_Silent_p.L78L|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.L13L|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	79	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592000									Basal_Cell_Nevus_syndrome			
TLR4	7099	broad.mit.edu	37	9	120474710	120474710	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:120474710A>G	uc004bjz.2	+	3	595	c.304A>G	c.(304-306)AGC>GGC	p.S102G	TLR4_uc004bka.2_Missense_Mutation_p.S62G|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	102	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAGAGCCTAAGCCACCTCTC	0.413000												
DBC1	1620	broad.mit.edu	37	9	122011416	122011416	+	Silent	SNP	A	A	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:122011416A>T	uc004bkc.2	-	3	687	c.231T>A	c.(229-231)CGT>CGA	p.R77R	DBC1_uc004bkd.2_Silent_p.R77R	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	77	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TCACCTTCCAACGGGCAAACT	0.552000												
CEL	1056	broad.mit.edu	37	9	135942255	135942255	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:135942255C>T	uc010naa.1	+	6	725	c.709C>T	c.(709-711)CGG>TGG	p.R237W		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	234					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGCCTCATCCGGCGAGCCAT	0.632000												
PHPT1	29085	broad.mit.edu	37	9	139744542	139744542	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:139744542T>C	uc004cjp.2	+	3	860	c.238T>C	c.(238-240)TCC>CCC	p.S80P	PHPT1_uc011mei.1_Missense_Mutation_p.S80P|PHPT1_uc004cjq.3_Missense_Mutation_p.S80P|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1 isoform 3	80						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGGGCGCATCTCCCACCAGAG	0.642000												
ABCA2	20	broad.mit.edu	37	9	139903860	139903860	+	Silent	SNP	G	G	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:139903860G>T	uc011mem.1	-	44	6934	c.6786C>A	c.(6784-6786)CGC>CGA	p.R2262R	ABCA2_uc011mel.1_Silent_p.R2263R|ABCA2_uc004ckl.1_Silent_p.R2193R|ABCA2_uc004ckm.1_Silent_p.R2293R	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2262	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCACCGCAGGCGACCGTTCA	0.488000												
FTHL17	53940	broad.mit.edu	37	X	31089731	31089731	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:31089731T>C	uc004dcl.1	-	1	443	c.340A>G	c.(340-342)AGC>GGC	p.S114G		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	114	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0						TCCAGCAGGCTCTGGTTGACG	0.602000												
MED14	9282	broad.mit.edu	37	X	40511086	40511086	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:40511086A>C	uc004dex.3	-	31	4477	c.4337T>G	c.(4336-4338)CTT>CGT	p.L1446R		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1446					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GGGCAGTGTAAGATTAGCCAT	0.398000												
PRICKLE3	4007	broad.mit.edu	37	X	49032441	49032441	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:49032441G>A	uc004dmy.1	-	9	1455	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R409C|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R396C|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R439C	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	477				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(1)	1						AGAGGGTCGCGGAAGCTGACG	0.736000												
NLGN3	54413	broad.mit.edu	37	X	70389196	70389196	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:70389196G>A	uc004dzb.2	+	7	2040	c.1736G>A	c.(1735-1737)CGA>CAA	p.R579Q	NLGN3_uc004dzc.2_Missense_Mutation_p.R462Q|NLGN3_uc011mps.1_Missense_Mutation_p.R559Q|NLGN3_uc004dze.2_Missense_Mutation_p.R397Q	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	599	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					TACAATCCCCGAGACCAGCTC	0.542000												
SLC16A2	6567	broad.mit.edu	37	X	73740839	73740839	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:73740839C>T	uc004ebt.2	+	2	833	c.667C>T	c.(667-669)CTC>TTC	p.L223F		NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	149	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	GGTCGGAGCCCTCGCGATGGG	0.522000												
MAGEE1	57692	broad.mit.edu	37	X	75650661	75650661	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:75650661A>G	uc004ecm.1	+	1	2545	c.2338A>G	c.(2338-2340)AGC>GGC	p.S780G		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	780	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCGAGAGTGCAGCAAAGTGTT	0.483000												
PCDH11X	27328	broad.mit.edu	37	X	91456413	91456413	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:91456413G>A	uc004efk.1	+	3	3918	c.3073G>A	c.(3073-3075)GAG>AAG	p.E1025K	PCDH11X_uc004efl.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efm.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efn.1_Missense_Mutation_p.E1025K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1025	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CCCCATGAAAGAGTCTACAAC	0.378000												
ZMAT1	84460	broad.mit.edu	37	X	101138598	101138598	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:101138598T>A	uc004eim.2	-	2	4786	c.1288A>T	c.(1288-1290)AGC>TGC	p.S430C	ZMAT1_uc011mrl.1_Missense_Mutation_p.S601C|ZMAT1_uc004ein.2_Missense_Mutation_p.S430C|ZMAT1_uc011mrm.1_Missense_Mutation_p.S430C	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	430						nucleus	zinc ion binding			ovary(1)	1						ACATCATGGCTTTTTTTCTTT	0.398000												
IRS4	8471	broad.mit.edu	37	X	107978448	107978448	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:107978448C>T	uc004eoc.2	-	1	1160	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	376						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGCTCAAAGCGGGACCTTCT	0.637000												
GUCY2F	2986	broad.mit.edu	37	X	108638688	108638688	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:108638688G>A	uc004eod.3	-	12	2582	c.2306C>T	c.(2305-2307)CCT>CTT	p.P769L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	769	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TCTGTACACAGGAGGAGGCTT	0.458000												
AMMECR1	9949	broad.mit.edu	37	X	109444244	109444244	+	Silent	SNP	C	C	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:109444244C>T	uc004eoo.2	-	5	906	c.825G>A	c.(823-825)TTG>TTA	p.L275L	AMMECR1_uc004eop.2_Silent_p.L238L|AMMECR1_uc004eoq.2_Silent_p.L152L	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	275	AMMECR1.										0						CTCCTTTCCTCAATAAGGAGT	0.383000												
DCX	1641	broad.mit.edu	37	X	110644397	110644397	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:110644397A>C	uc004epd.2	-	3	941	c.769T>G	c.(769-771)TTT>GTT	p.F257V	DCX_uc011msv.1_Missense_Mutation_p.F257V|DCX_uc004epe.2_Missense_Mutation_p.F176V|DCX_uc004epf.2_Missense_Mutation_p.F176V|DCX_uc004epg.2_Missense_Mutation_p.F176V	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	257					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						GGGCGCACAAAGTCCTTGTTC	0.537000												
IL13RA2	3598	broad.mit.edu	37	X	114249023	114249023	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:114249023T>G	uc004epx.2	-	4	486	c.361A>C	c.(361-363)AGT>CGT	p.S121R	IL13RA2_uc010nqd.1_Missense_Mutation_p.S121R	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	121	Extracellular (Potential).|Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						GCCCAGGAACTTTGAACTTCT	0.358000												
GPR112	139378	broad.mit.edu	37	X	135427615	135427615	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:135427615T>G	uc004ezu.1	+	6	2041	c.1750T>G	c.(1750-1752)TTA>GTA	p.L584V	GPR112_uc010nsb.1_Missense_Mutation_p.L379V|GPR112_uc010nsc.1_Missense_Mutation_p.L351V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACGTACAGCCTTAACTCCTGA	0.433000												
CD40LG	959	broad.mit.edu	37	X	135738537	135738537	+	Silent	SNP	G	G	A	rs148581967		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:135738537G>A	uc004faa.2	+	4	441	c.369G>A	c.(367-369)GCG>GCA	p.A123A	CD40LG_uc010nsd.2_Intron|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	123	Extracellular (Potential).		A -> E (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CTCAAATTGCGGCACATGTCA	0.463000									Immune_Deficiency_with_Hyper-IgM			
TP53	7157	broad.mit.edu	37	17	7573993	7573994	+	Frame_Shift_Ins	INS	-	-	TCAGC			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:7573993_7573994insTCAGC	uc002gim.2	-	10	1227_1228	c.1033_1034insGCTGA	c.(1033-1035)AATfs	p.N345fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Ins_p.N213fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Ins_p.N345fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	345	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.N345fs*25(3)|p.L344fs*23(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAGGCCTCATTCAGCTCTCGG	0.530		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
RBM34	23029	broad.mit.edu	37	1	235323865	235323870	+	In_Frame_Del	DEL	TTCGCT	TTCGCT	-			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:235323864_235323869CTTCGCT>C	uc001hwn.3	-	2	553_558	c.322_327AGCGAAG>G	c.(322-327)gcgaag>G	p.AK108del	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_In_Frame_Del_p.AK108del	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	108						nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGTGTTTCTTCTTCGCTTTCACTTTT	0.350												
RAB3GAP1	22930	broad.mit.edu	37	2	135884190	135884191	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:135884189_135884190T>TAA	uc010fnf.3	+	10	979_980	c.936_937T>TAA	c.(934-939)gttagafs	p.V312fs	RAB3GAP1_uc002tuj.3_Frame_Shift_Ins_p.V312fs|RAB3GAP1_uc010fng.3_Frame_Shift_Ins_p.V137fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	312						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATTGGTCTGTTAGAGTTCGAAA	0.361												
OR2B6	26212	broad.mit.edu	37	6	27925097	27925098	+	Frame_Shift_Ins	INS	-	-	CTCC			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:27925096_27925097A>ACTCC	uc011dkx.2	+	0	78_79	c.78_79A>ACTCC	c.(76-81)ccactcfs	p.P26fs		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAGTTTCCACTCCTTGTGGT	0.426												
MLLT3	4300	broad.mit.edu	37	9	20456715	20456720	+	In_Frame_Del	DEL	TAAACT	TAAACT	-			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:20456714_20456719ATAAACT>A	uc003zoe.2	-	2	518_523	c.259_264AGTTTAT>T	c.(259-264)gtttat>T	p.VY87del	MLLT3_uc011lne.1_In_Frame_Del_p.VY55del|MLLT3_uc011lnf.1_In_Frame_Del_p.VY84del|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	87	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGTTTTTAAAATAAACTTCAATTGGC	0.320			T	MLL	ALL							
COL15A1	1306	broad.mit.edu	37	9	101797335	101797335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:101797334_101797334GA>G	uc004azb.1	+	17	2324	c.2118_2118GA>G	c.(2116-2118)gggfs	p.G706fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617												
CTNNA3	29119	broad.mit.edu	37	10	68535271	68535272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68535270_68535271C>CT	uc009xpn.1	-	7	1182_1183	c.1059_1060G>AG	c.(1057-1062)aaagaafs	p.K353fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K353fs|CTNNA3_uc001jmx.4_Frame_Shift_Ins_p.K353fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	353					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTACTCCTTTCTTTTTTTCCAG	0.361												
MUC6	4588	broad.mit.edu	37	11	1017954	1017961	+	Frame_Shift_Del	DEL	ACGTGAGT	ACGTGAGT	-	rs113926343		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:1017953_1017960AACGTGAGT>A	uc001lsw.2	-	30	4892_4899	c.4841_4848ACTCACGTT>T	c.(4840-4848)actcacgttfs	p.T1614fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1614	Approximate repeats.|Pro-rich.|Thr-rich.				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)		AGAAAGGTGGAACGTGAGTGGGAAGTGT	0.543												
SPATA7	55812	broad.mit.edu	37	14	88904692	88904694	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:88904691_88904693CAAT>C	uc001xwq.3	+	11	2146_2148	c.1725_1727CAAT>C	c.(1723-1728)gacaat>gaCt	p.N577del	SPATA7_uc001xwr.3_In_Frame_Del_p.N545del|SPATA7_uc001xws.3_In_Frame_Del_p.N513del|SPATA7_uc001xwt.3_In_Frame_Del_p.N471del|SPATA7_uc001xwu.3_In_Frame_Del_p.N92del	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	577					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCAAAGGCGACAATAATCATGAC	0.384												
PRSS22	64063	broad.mit.edu	37	16	2903991	2903996	+	In_Frame_Del	DEL	GCTTCT	GCTTCT	-			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:2903990_2903995AGCTTCT>A	uc002cry.1	-	4	654_659	c.588_593AGAAGCT>T	c.(586-594)cagaagctg>caTg	p.196_198QKL>H		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGGAACCTTCAGCTTCTGCAGGGTCT	0.583												
TP53	7157	broad.mit.edu	37	17	7573994	7573995	+	Frame_Shift_Ins	INS	-	-	TCAGC			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:7573993_7573994T>TTCAGC	uc002gim.2	-	9	1227_1228	c.1033_1034A>GCTGAA	c.(1033-1035)aatfs	p.N345fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Ins_p.N213fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Ins_p.N345fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	345	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.N345fs*25(5)|p.L344fs*23(3)|p.L344P(3)|p.L344fs*22(2)|p.R342_N345delRELN(2)|p.L344R(2)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAGGCCTCATTCAGCTCTCGG	0.574		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
