Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
DOCK7	85440	broad.mit.edu	37	1	63027310	63027310	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:63027310G>A	uc001daq.2	-	19	2211	c.2177C>T	c.(2176-2178)GCT>GTT	p.A726V	DOCK7_uc001dan.2_Missense_Mutation_p.A618V|DOCK7_uc001dao.2_Missense_Mutation_p.A618V|DOCK7_uc001dap.2_Missense_Mutation_p.A726V	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	726	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AGACGAAACAGCAACAACTTC	0.289		NA											3	56					0	0	0	0
ADCY10	55811	broad.mit.edu	37	1	167868860	167868860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:167868860G>A	uc001ger.2	-	6	741	c.443C>T	c.(442-444)GCT>GTT	p.A148V	ADCY10_uc009wvk.2_Missense_Mutation_p.A56V|ADCY10_uc010plj.1_5'UTR|ADCY10_uc009wvl.2_Missense_Mutation_p.A147V|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	148	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GTGGCCAGCAGCCAGTCCTGG	0.493		NA											9	20					0	0	0	0
ADAM12	8038	broad.mit.edu	37	10	127724762	127724762	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr10:127724762C>T	uc001ljk.2	-	21	2904	c.2491G>A	c.(2491-2493)GTC>ATC	p.V831I	ADAM12_uc010qul.1_Missense_Mutation_p.V782I	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	831	SH3-binding; class II (By similarity).|Cytoplasmic (Potential).				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTGGCAGGGACGCTAGGTGCA	0.522		NA											4	43					0	0	0	0
IFITM1	8519	broad.mit.edu	37	11	314246	314246	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:314246A>C	uc001loy.3	+	1	256	c.76A>C	c.(76-78)AAC>CAC	p.N26H		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	26	Extracellular (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCGTGATCAACATCCACAG	0.572		NA											3	113					0	0	0	0
OR52N1	79473	broad.mit.edu	37	11	5809766	5809766	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:5809766A>G	uc010qzo.1	-	1	281	c.281T>C	c.(280-282)ATT>ACT	p.I94T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTAAAATCAATCTCCTTGAG	0.502		NA											24	95					0	0	0	0
MICAL2	9645	broad.mit.edu	37	11	12278373	12278373	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:12278373C>T	uc001mjz.2	+	24	3285	c.2997C>T	c.(2995-2997)AGC>AGT	p.S999S	MICAL2_uc010rch.1_Silent_p.S809S|MICAL2_uc001mka.2_Silent_p.S999S|MICAL2_uc010rci.1_Silent_p.S978S|MICAL2_uc001mkb.2_Silent_p.S773S|MICAL2_uc001mkc.2_Silent_p.S752S|MICAL2_uc001mkd.2_Silent_p.S581S|MICAL2_uc010rcj.1_Silent_p.S211S|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	999						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TGGGAGGCAGCGACACGTGTT	0.537		NA											11	43					0	0	0	0
KCNA4	3739	broad.mit.edu	37	11	30032556	30032556	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:30032556G>A	uc001msk.2	-	2	2822	c.1670C>T	c.(1669-1671)CCA>CTA	p.P557L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	557	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GACAATCACTGGCACTGGCAA	0.498		NA											25	25					0	0	0	0
EML3	256364	broad.mit.edu	37	11	62373575	62373575	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:62373575A>C	uc001ntu.1	-	13	1924	c.1616T>G	c.(1615-1617)GTA>GGA	p.V539G	EML3_uc001ntr.1_Missense_Mutation_p.V511G|EML3_uc001nts.1_Missense_Mutation_p.V511G|EML3_uc001ntt.1_Missense_Mutation_p.V423G|EML3_uc010rly.1_Missense_Mutation_p.V539G|EML3_uc009yny.1_Missense_Mutation_p.V322G	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	539	WD 5.					cytoplasm|microtubule	protein binding			ovary(1)	1						CCCCCACTGTACCAGCCGGCG	0.647		NA											11	95					0	0	0	0
SIDT2	51092	broad.mit.edu	37	11	117054508	117054508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:117054508C>T	uc001pqh.1	+	7	757	c.716C>T	c.(715-717)CCC>CTC	p.P239L	SIDT2_uc010rxe.1_Missense_Mutation_p.P239L|SIDT2_uc001pqg.2_Missense_Mutation_p.P239L|SIDT2_uc001pqi.1_Missense_Mutation_p.P239L	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	239	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAAGACTTCCCCAGCAACAGC	0.403		NA											12	37					0	0	0	0
KRT85	3891	broad.mit.edu	37	12	52758101	52758101	+	Missense_Mutation	SNP	C	C	T	rs141072357	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:52758101C>T	uc001sag.2	-	3	799	c.679G>A	c.(679-681)GTT>ATT	p.V227I		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	227	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTTAGAACGACAAACTCA	0.572		NA											14	44					0	0	0	0
CCDC38	120935	broad.mit.edu	37	12	96288808	96288808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:96288808G>T	uc001tek.1	-	8	965	c.731C>A	c.(730-732)TCA>TAA	p.S244*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	244										skin(1)	1						TTTACTTTTTGATGCCTGTGC	0.343		NA											46	82					1.61e-24	2.14e-24	1	0
NALCN	259232	broad.mit.edu	37	13	101759893	101759893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr13:101759893G>A	uc001vox.1	-	22	2713	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	842	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGTGTTCTCGCCCGACAATG	0.498		NA											15	35					0	0	0	0
OR4K15	81127	broad.mit.edu	37	14	20444186	20444186	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:20444186T>C	uc010tkx.1	+	1	509	c.509T>C	c.(508-510)CTC>CCC	p.L170P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	170	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGCTCGTCCTCATTTCATGG	0.448		NA											3	93					0	0	0	0
ITFG3	83986	broad.mit.edu	37	16	312195	312195	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr16:312195C>A	uc002cgf.2	+	7	1007	c.812C>A	c.(811-813)ACA>AAA	p.T271K	ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.T271K|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.T271K	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	271	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTCACCAGGACAGGTGCCCAC	0.622		NA											3	26					1.02e-07	1.27e-07	1	0
SERPINF1	5176	broad.mit.edu	37	17	1675210	1675210	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:1675210T>C	uc002ftl.2	+	5	641	c.484T>C	c.(484-486)TAT>CAT	p.Y162H	SERPINF1_uc010cjw.2_5'UTR	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	162					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						GGAAAAGTCATATGGGACCAG	0.567		NA											7	33					0	0	0	0
OR3A2	4995	broad.mit.edu	37	17	3181737	3181737	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3181737C>T	uc002fvg.2	-	1	532	c.493G>A	c.(493-495)GCA>ACA	p.A165T		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	165	Helical; Name=4; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGGGTCAGTGCGTTGGTGAAG	0.582		NA											21	89					0	0	0	0
ATP2A3	489	broad.mit.edu	37	17	3850835	3850835	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3850835G>A	uc002fxb.1	-	8	1096	c.945C>T	c.(943-945)ATC>ATT	p.I315I	ATP2A3_uc002fwx.1_Silent_p.I315I|ATP2A3_uc002fwy.1_Silent_p.I315I|ATP2A3_uc002fwz.1_Silent_p.I315I|ATP2A3_uc002fxa.1_Silent_p.I315I|ATP2A3_uc002fxc.1_Silent_p.I315I|ATP2A3_uc002fxd.1_Silent_p.I315I	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	315	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCATGTAGTGATGACAGCCG	0.682		NA											53	28					0	0	0	0
DVL2	1856	broad.mit.edu	37	17	7132326	7132326	+	Silent	SNP	G	G	A	rs141544993		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7132326G>A	uc002gez.1	-	9	1278	c.996C>T	c.(994-996)GAC>GAT	p.D332D	DVL2_uc010vtr.1_Silent_p.D326D	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	332	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						CCCGCACAGCGTCATCGTTGC	0.547		NA											46	21					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)			13	16					0	0	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910382	7910382	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7910382G>A	uc002gjt.2	+	5	1457	c.1383G>A	c.(1381-1383)CTG>CTA	p.L461L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	461	Extracellular (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			skin(1)	1		Prostate(122;0.157)				CTTCAGGACTGGAGCCGGGCC	0.602		NA											14	59					0	0	0	0
DCC	1630	broad.mit.edu	37	18	50832067	50832067	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr18:50832067C>A	uc002lfe.1	+	13	2618	c.2031C>A	c.(2029-2031)AAC>AAA	p.N677K	DCC_uc010xdr.1_Missense_Mutation_p.N525K|DCC_uc010dpf.1_Missense_Mutation_p.N332K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	677	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGCCAAACAACCTCTGGT	0.423		NA											15	49					9.17e-09	1.18e-08	1	0
EMR1	2015	broad.mit.edu	37	19	6908712	6908712	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr19:6908712G>A	uc002mfw.2	+	10	1089	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T	EMR1_uc010dvc.2_Missense_Mutation_p.A351T|EMR1_uc010dvb.2_Missense_Mutation_p.A299T|EMR1_uc010xji.1_Missense_Mutation_p.A210T|EMR1_uc010xjj.1_Missense_Mutation_p.A174T	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	351	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					CTCCTTTTGTGCACAAATAAA	0.368		NA											15	42					0	0	0	0
ZNF512	84450	broad.mit.edu	37	2	27822848	27822848	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:27822848C>T	uc002rla.2	+	5	472	c.385C>T	c.(385-387)CGG>TGG	p.R129W	ZNF512_uc010ylv.1_Missense_Mutation_p.R50W|ZNF512_uc010ylw.1_Intron|ZNF512_uc002rlb.2_Missense_Mutation_p.R50W|ZNF512_uc010ylx.1_Missense_Mutation_p.R50W|ZNF512_uc002rlc.2_Missense_Mutation_p.R50W|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Intron	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCAACGGCCTAAAAC	0.478		NA											15	15					0	0	0	0
SATB2	23314	broad.mit.edu	37	2	200298060	200298060	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:200298060C>A	uc002uuy.1	-	3	1163	c.346_splice	c.e3+1	p.G116_splice	SATB2_uc010fsq.1_Splice_Site_p.V116_splice|SATB2_uc002uuz.1_Splice_Site_p.G116_splice|SATB2_uc002uva.1_Splice_Site_p.G116_splice	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCATTAATACCTTGGGCCTG	0.498		NA											12	27					0.00136819	0.0015444	1	0
KIAA1486	57624	broad.mit.edu	37	2	226447697	226447697	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:226447697C>T	uc002voe.2	+	4	1739	c.1564C>T	c.(1564-1566)CGC>TGC	p.R522C	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R292C	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	522										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CTCCTCCGGCCGCAGCCTGCT	0.701		NA											6	10					0	0	0	0
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Silent	SNP	C	C	T	rs143281239		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr4:96761394C>T	uc003htr.3	+	1	156	c.93C>T	c.(91-93)GAC>GAT	p.D31D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502		NA											4	21					0	0	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr5:140553676C>T	uc003lit.2	+	1	1434	c.1260C>T	c.(1258-1260)ACC>ACT	p.T420T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	420	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512		NA											3	64					0	0	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745185	140745185	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr5:140745185C>A	uc003lju.1	+	1	1288	c.1288C>A	c.(1288-1290)CCG>ACG	p.P430T	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_uc011das.1_Missense_Mutation_p.P430T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	430	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGAACCCCGCCCCTCTC	0.458		NA											25	62					6.33e-13	8.27e-13	1	0
KCNK17	89822	broad.mit.edu	37	6	39271892	39271892	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:39271892G>A	uc003ooo.2	-	4	669	c.529C>T	c.(529-531)CGG>TGG	p.R177W	KCNK17_uc003oop.2_Missense_Mutation_p.R177W	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	177	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2						GCCAGCCACCGCGCCTTGTCA	0.672		NA											8	32					0	0	0	0
TJAP1	93643	broad.mit.edu	37	6	43471425	43471425	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:43471425G>A	uc003ovd.2	+	10	936	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	TJAP1_uc003ovf.2_Missense_Mutation_p.R177Q|TJAP1_uc003ove.2_Missense_Mutation_p.R177Q|TJAP1_uc003ovc.2_Missense_Mutation_p.R177Q|TJAP1_uc010jyp.2_Missense_Mutation_p.R146Q|TJAP1_uc011dvh.1_Missense_Mutation_p.R177Q|TJAP1_uc003ovg.2_Missense_Mutation_p.R53Q|TJAP1_uc011dvi.1_Missense_Mutation_p.R187Q|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Missense_Mutation_p.R53Q	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	187						Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCACTTCCGAAACCACAAG	0.562		NA											8	36					0	0	0	0
FILIP1	27145	broad.mit.edu	37	6	76023395	76023395	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:76023395C>T	uc003pia.2	-	5	2526	c.2153G>A	c.(2152-2154)CGA>CAA	p.R718Q	FILIP1_uc003phy.1_Missense_Mutation_p.R718Q|FILIP1_uc003phz.2_Missense_Mutation_p.R619Q|FILIP1_uc010kbe.2_Missense_Mutation_p.R721Q|FILIP1_uc003pib.1_Missense_Mutation_p.R470Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	718	Potential.									skin(3)|ovary(1)	4						TTTTAAGTCTCGACTTTTAGC	0.403		NA											36	77					0	0	0	0
FNDC1	84624	broad.mit.edu	37	6	159653380	159653380	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:159653380G>A	uc010kjv.2	+	11	2036	c.1836G>A	c.(1834-1836)GCG>GCA	p.A612A	FNDC1_uc010kjw.1_Silent_p.A497A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAGGGGCGCCCCCCTCGG	0.687		NA											11	28					0	0	0	0
PION	54103	broad.mit.edu	37	7	76984647	76984647	+	Silent	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:76984647C>A	uc003ugf.2	-	16	1300	c.1221G>T	c.(1219-1221)CTG>CTT	p.L407L	PION_uc003ugg.1_Silent_p.L192L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	407					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						ACTGGCTGAGCAGTGCTCTAT	0.473		NA											21	70					3.1e-05	3.64e-05	1	0
PRSS1	5644	broad.mit.edu	37	7	142459656	142459656	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:142459656A>G	uc003wak.2	+	3	249	c.232A>G	c.(232-234)ATC>GTC	p.I78V	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.I18V	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAGCACAACATCGAAGTCCT	0.552		NA							Hereditary_Pancreatitis				7	132					0	0	0	0
FRMD3	257019	broad.mit.edu	37	9	85950554	85950554	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:85950554G>A	uc004ams.1	-	6	675	c.473C>T	c.(472-474)GCT>GTT	p.A158V	FRMD3_uc004amr.1_Missense_Mutation_p.A144V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	158	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						ACCAAGCTCAGCTGTAATGAG	0.413		NA											10	23					0	0	0	0
LPPR1	54886	broad.mit.edu	37	9	104048520	104048520	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:104048520T>A	uc004bbb.2	+	4	784	c.385_splice	c.e4+2	p.G129_splice	LPPR1_uc011lvi.1_Splice_Site_p.G105_splice|LPPR1_uc004bbc.2_Splice_Site_p.G129_splice|LPPR1_uc010mtc.2_Splice_Site_p.G113_splice	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3							integral to membrane	catalytic activity				0						GATTCACAGGTGAGTACAAGA	0.373		NA											13	38					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393579	139393579	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:139393579C>T	uc004chz.2	-	32	6067	c.6067G>A	c.(6067-6069)GCC>ACC	p.A2023T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2023	ANK 3.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCATCTACGGCGTTGACGTCG	0.682		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			44	33					0	0	0	0
SORL1	6653	broad.mit.edu	37	11	121445040	121445050	+	Frame_Shift_Del	DEL	ACTGTGGAGAC	ACTGTGGAGAC	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:121445040_121445050delACTGTGGAGAC	uc001pxx.2	+	24	3508_3518	c.3428_3438delACTGTGGAGAC	c.(3427-3438)GACTGTGGAGACfs	p.D1143fs	SORL1_uc010rzp.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1143_1146	Extracellular (Potential).|LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTGAGGATGACTGTGGAGACAACAGTGATG	0.512		NA											8	99	---	---	---	---	NA	NA	NA	NA
MAGEF1	64110	broad.mit.edu	37	3	184428979	184428983	+	Frame_Shift_Del	DEL	TCGGA	TCGGA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:184428979_184428983delTCGGA	uc003fpa.2	-	1	854_858	c.627_631delTCCGA	c.(625-633)TATCCGAAGfs	p.Y209fs		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	209_211	MAGE.									ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			ATAAGCCTCTTCGGATACCCAAAGA	0.507		NA											31	59	---	---	---	---	NA	NA	NA	NA
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:116187646_116187648delGCA	uc004bho.3	+	10	1284_1286	c.888_890delGCA	c.(886-891)CGGCAG>CGG	p.Q304del	C9orf43_uc004bhp.2_In_Frame_Del_p.Q304del	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	304	Gln-rich.										0						agcagcagcggcagcagcagcag	0.438		NA											7	63	---	---	---	---	NA	NA	NA	NA