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
VPS13D	55187	broad.mit.edu	37	1	12304644	12304644	+	Silent	SNP	C	C	A	rs34489138	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:12304644C>A	uc001atv.2	+	5	558	c.417C>A	c.(415-417)TCC>TCA	p.S139S	VPS13D_uc001atw.2_Silent_p.S139S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	139					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCGCCTCCGTAGTTACAA	0.413		NA											35	19					2.32e-10	2.75e-10	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16058487	16058487	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:16058487A>G	uc010obo.1	+	17	2796	c.2569A>G	c.(2569-2571)AGC>GGC	p.S857G		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	857	Interaction with sifA.|PH.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTGCCGAGAGCGAGGCCGA	0.667		NA											10	8					0	0	0	0
PADI4	23569	broad.mit.edu	37	1	17668883	17668883	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:17668883G>A	uc001baj.2	+	8	949	c.921G>A	c.(919-921)GAG>GAA	p.E307E	PADI4_uc009vpc.2_Silent_p.E307E	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632		NA											15	7					0	0	0	0
JAK1	3716	broad.mit.edu	37	1	65301898	65301898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:65301898C>T	uc001dbu.1	-	23	3390	c.3141G>A	c.(3139-3141)TGG>TGA	p.W1047*	JAK1_uc009wam.1_Nonsense_Mutation_p.W1035*|JAK1_uc009wal.1_Nonsense_Mutation_p.W224*	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1047	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.W1047G(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTGGAGCATACCTTGAAAGGA	0.403		NA	Mis		ALL								15	6					0	0	0	0
FAM102B	284611	broad.mit.edu	37	1	109170788	109170788	+	Splice_Site	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:109170788G>C	uc010ouy.1	+	7	637	c.557_splice	c.e7-1	p.D186_splice		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611											large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378		NA											25	10					0	0	0	0
PROK1	84432	broad.mit.edu	37	1	110996644	110996644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:110996644G>A	uc001dzs.2	+	2	185	c.134G>A	c.(133-135)CGA>CAA	p.R45Q		NM_032414	NP_115790	P58294	PROK1_HUMAN	prokineticin 1 precursor	45					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity				0		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGTGGCTTCGAGGGCTGCGG	0.622		NA											24	14					0	0	0	0
ZNF687	57592	broad.mit.edu	37	1	151259689	151259690	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259689_151259690GG>TT	uc001exq.2	+	2	1020_1021	c.922_923GG>TT	c.(922-924)GGG>TTG	p.G308L	ZNF687_uc001exp.1_Missense_Mutation_p.G317L|ZNF687_uc009wmo.2_Missense_Mutation_p.G308L|ZNF687_uc009wmp.2_Missense_Mutation_p.G308L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGCT	0.569		NA											29	42					0	0	0	0
THEM5	284486	broad.mit.edu	37	1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151820766A>C	uc009wnd.2	-	4	599	c.467T>G	c.(466-468)TTT>TGT	p.F156C		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	156							hydrolase activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602		NA											13	26					0	0	0	0
HSPA6	3310	broad.mit.edu	37	1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:161495385C>T	uc001gap.2	+	2	1597	c.937C>T	c.(937-939)CGC>TGC	p.R313C	HSPA6_uc001gaq.2_Missense_Mutation_p.R313C	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632		NA											5	30					0	0	0	0
ADCY10	55811	broad.mit.edu	37	1	167865864	167865864	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:167865864G>A	uc001ger.2	-	7	1006	c.708C>T	c.(706-708)TTC>TTT	p.F236F	ADCY10_uc009wvk.2_Silent_p.F144F|ADCY10_uc010plj.1_Silent_p.F83F|ADCY10_uc009wvl.2_Silent_p.F235F|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	236					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						AATAATGCATGAAGGTCGTAC	0.368		NA											57	281					0	0	0	0
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:170695536C>G	uc001ghf.2	+	3	640	c.593C>G	c.(592-594)CCG>CGG	p.P198R	PRRX1_uc001ghe.2_Missense_Mutation_p.P198R	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562		NA											25	37					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:200967679G>A	uc001gvs.1	-	14	2227	c.1910C>T	c.(1909-1911)GCC>GTC	p.A637V	KIF21B_uc001gvr.1_Missense_Mutation_p.A637V|KIF21B_uc009wzl.1_Missense_Mutation_p.A637V|KIF21B_uc010ppn.1_Missense_Mutation_p.A637V	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	637	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AGTCAGGTCGGCCAGGTCCGC	0.587		NA											31	44					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:208216455C>T	uc001hgz.2	-	21	4726	c.3968G>A	c.(3967-3969)CGA>CAA	p.R1323Q		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1323	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607		NA											29	32					0	0	0	0
SPATA17	128153	broad.mit.edu	37	1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:217955658A>G	uc001hlh.1	+	8	892	c.866A>G	c.(865-867)GAC>GGC	p.D289G	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.D289G	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363		NA											15	27					0	0	0	0
ACBD3	64746	broad.mit.edu	37	1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:226340302G>C	uc001hpy.2	-	7	1156	c.1109C>G	c.(1108-1110)GCA>GGA	p.A370G		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	370					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448		NA											76	139					0	0	0	0
OR2L2	26246	broad.mit.edu	37	1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:248202502A>C	uc001idw.2	+	1	1029	c.933A>C	c.(931-933)AAA>AAC	p.K311N	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	311	Cytoplasmic (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)			TCTCAGTGAAAATGTAGACAT	0.443		NA											7	69					0	0	0	0
ARMC4	55130	broad.mit.edu	37	10	28270429	28270429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:28270429T>C	uc009xky.2	-	7	1000	c.902A>G	c.(901-903)AAA>AGA	p.K301R	ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.K301R|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	301							binding			ovary(4)|skin(2)	6						TTTTGGTGATTTTTCTCTTAA	0.294		NA											42	9					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:33199209A>C	uc001iws.3	-	14	2242	c.2106T>G	c.(2104-2106)TAT>TAG	p.Y702*	ITGB1_uc001iwp.3_Nonsense_Mutation_p.Y702*|ITGB1_uc001iwq.3_Nonsense_Mutation_p.Y702*|ITGB1_uc001iwr.3_Nonsense_Mutation_p.Y702*|ITGB1_uc001iwt.3_Nonsense_Mutation_p.Y702*|ITGB1_uc001iwu.1_Nonsense_Mutation_p.Y702*	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	702	Extracellular (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)				AATACGTAAAATAGAACCAAC	0.433		NA											17	8					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48388214	48388214	+	Silent	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:48388214G>T	uc001jez.2	-	1	2778	c.2664C>A	c.(2662-2664)CCC>CCA	p.P888P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	888	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ATGCATATAAGGGGCTGCTGC	0.647		NA											18	13					6.94e-10	8.16e-10	1	0
NRAP	4892	broad.mit.edu	37	10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:115384664T>A	uc001laj.2	-	22	2434	c.2270A>T	c.(2269-2271)CAG>CTG	p.Q757L	NRAP_uc009xyb.2_Missense_Mutation_p.Q68L|NRAP_uc001lak.2_Missense_Mutation_p.Q722L|NRAP_uc001lal.3_Missense_Mutation_p.Q757L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	757	Nebulin 18.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567		NA											39	12					0	0	0	0
EBF3	253738	broad.mit.edu	37	10	131640476	131640476	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:131640476C>A	uc001lki.1	-	13	1308	c.1249G>T	c.(1249-1251)GGC>TGC	p.G417C		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	426					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTTGTTGCCCAGGGTGGGG	0.597		NA											64	41					1.43e-28	1.84e-28	1	0
NLRP6	171389	broad.mit.edu	37	11	284488	284488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:284488G>A	uc010qvs.1	+	7	2386	c.2386G>A	c.(2386-2388)GAC>AAC	p.D796N	NLRP6_uc010qvt.1_Missense_Mutation_p.D795N	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697		NA											18	7					0	0	0	0
OR51A4	401666	broad.mit.edu	37	11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:4967665G>C	uc010qys.1	-	1	666	c.666C>G	c.(664-666)ATC>ATG	p.I222M		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433		NA											23	13					0	0	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17139063	17139063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:17139063C>T	uc001mmq.3	-	18	3257	c.3191G>A	c.(3190-3192)AGG>AAG	p.R1064K	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R684K|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1064					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ACTAGCCTGCCTTACTTTTTC	0.393		NA											51	13					0	0	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:20652257G>A	uc001mqd.2	+	10	1793	c.1520G>A	c.(1519-1521)TGC>TAC	p.C507Y	SLC6A5_uc009yic.2_Missense_Mutation_p.C272Y	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	507	Helical; Name=7; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493		NA											5	115					0	0	0	0
OR4C6	219432	broad.mit.edu	37	11	55432771	55432771	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55432771T>C	uc001nht.3	+	3	394	c.129T>C	c.(127-129)ATT>ATC	p.I43I	OR4C6_uc010rik.1_Silent_p.I43I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						ATCTACTTATTGTGGTAACTA	0.408		NA											82	66					0	0	0	0
OR8I2	120586	broad.mit.edu	37	11	55861497	55861497	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55861497C>A	uc010rix.1	+	1	714	c.714C>A	c.(712-714)TCC>TCA	p.S238S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AGGCCTTCTCCACCTGCGCAT	0.493		NA											62	66					4.6e-24	5.89e-24	1	0
OR8J3	81168	broad.mit.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55904545G>T	uc010riz.1	-	1	650	c.650C>A	c.(649-651)TCT>TAT	p.S217Y		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363		NA											26	42					2.42e-17	2.96e-17	1	0
OR4D6	219983	broad.mit.edu	37	11	59224764	59224764	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:59224764G>T	uc010rku.1	+	1	331	c.331G>T	c.(331-333)GAT>TAT	p.D111Y		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGGTGGGGCAGATATTTTTTT	0.483		NA											50	139					3.77e-18	4.63e-18	1	0
MEN1	4221	broad.mit.edu	37	11	64577227	64577227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:64577227T>A	uc001obj.2	-	2	428	c.355A>T	c.(355-357)AAG>TAG	p.K119*	MEN1_uc001obk.2_Nonsense_Mutation_p.K119*|MEN1_uc001obl.2_Nonsense_Mutation_p.K119*|MEN1_uc001obm.2_Nonsense_Mutation_p.K119*|MEN1_uc001obn.2_Nonsense_Mutation_p.K119*|MEN1_uc001obo.2_Nonsense_Mutation_p.K119*|MEN1_uc001obp.2_Nonsense_Mutation_p.K119*|MEN1_uc001obq.2_Nonsense_Mutation_p.K119*|MEN1_uc001obr.2_Nonsense_Mutation_p.K119*	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	119			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.K119del(3)|p.S114fs*60(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GAGACCTTCTTCACCAGCTCA	0.612		NA	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				55	47					0	0	0	0
WNT11	7481	broad.mit.edu	37	11	75907652	75907652	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:75907652A>G	uc001oxe.2	-	2	317	c.194T>C	c.(193-195)CTC>CCC	p.L65P	WNT11_uc001oxf.1_Missense_Mutation_p.L65P	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	65					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CGTGTGCATGAGCTCCAGGTT	0.647		NA											40	26					0	0	0	0
PCF11	51585	broad.mit.edu	37	11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:82881002C>A	uc001ozx.3	+	8	3970	c.3625C>A	c.(3625-3627)CCA>ACA	p.P1209T	PCF11_uc010rsu.1_Missense_Mutation_p.P1340T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1209					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TATACCTGCTCCAATGACAGT	0.348		NA											12	14					3.07e-06	3.44e-06	1	0
CCDC89	220388	broad.mit.edu	37	11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:85396180G>A	uc001pau.1	-	1	1141	c.994C>T	c.(994-996)CGC>TGC	p.R332C		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498		NA											23	71					0	0	0	0
ANKK1	255239	broad.mit.edu	37	11	113266828	113266828	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:113266828G>C	uc001pny.2	+	5	816	c.722G>C	c.(721-723)GGC>GCC	p.G241A		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GTGGCGGCAGGCATGCGGCCC	0.597		NA											22	52					0	0	0	0
OR8B4	283162	broad.mit.edu	37	11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:124294456A>C	uc010sak.1	-	1	312	c.312T>G	c.(310-312)TGT>TGG	p.C104W		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423		NA											16	51					0	0	0	0
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:11421068G>A	uc001qzs.2	-	3	153	c.115C>T	c.(115-117)CGA>TGA	p.R39*	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	39	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547		NA											57	92					0	0	0	0
NELL2	4753	broad.mit.edu	37	12	44917184	44917184	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:44917184A>T	uc001rog.2	-	17	2483	c.1888T>A	c.(1888-1890)TGT>AGT	p.C630S	NELL2_uc001rof.3_Missense_Mutation_p.C629S|NELL2_uc001roh.2_Missense_Mutation_p.C630S|NELL2_uc009zkd.2_Missense_Mutation_p.C582S|NELL2_uc010skz.1_Missense_Mutation_p.C680S|NELL2_uc010sla.1_Missense_Mutation_p.C653S|NELL2_uc001roi.1_Missense_Mutation_p.C630S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	630	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGAGGACATCGACAATCA	0.448		NA											30	92					0	0	0	0
ESPL1	9700	broad.mit.edu	37	12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:53662897C>A	uc001sck.2	+	3	262	c.171C>A	c.(169-171)TGC>TGA	p.C57*	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	57					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGAGGGCTTGCAACCAGCAGC	0.572		NA											40	31					1.97e-18	2.43e-18	1	0
SRGAP1	57522	broad.mit.edu	37	12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:64505580A>G	uc010ssp.1	+	17	2014	c.1958A>G	c.(1957-1959)TAT>TGT	p.Y653C	SRGAP1_uc001srv.2_Missense_Mutation_p.Y590C	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378		NA											21	55					0	0	0	0
TMPO	7112	broad.mit.edu	37	12	98931317	98931317	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:98931317A>T	uc001tfj.2	+	4	867	c.630A>T	c.(628-630)GTA>GTT	p.V210V	TMPO_uc001tfi.1_Silent_p.V210V|TMPO_uc001tfk.2_Silent_p.V210V|TMPO_uc001tfl.2_RNA	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	210	Nucleoplasmic (Potential).|NAKAP95-binding N.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						AGACTCCAGTAACACTCAAGC	0.388		NA											7	14					0	0	0	0
GIT2	9815	broad.mit.edu	37	12	110427583	110427583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:110427583C>T	uc001tps.2	-	3	376	c.211G>A	c.(211-213)GGT>AGT	p.G71S	GIT2_uc001tpq.2_Missense_Mutation_p.G71S|GIT2_uc001tpv.2_Missense_Mutation_p.G71S|GIT2_uc001tpu.2_Missense_Mutation_p.G71S|GIT2_uc001tpt.2_Missense_Mutation_p.G71S|GIT2_uc010sxu.1_Missense_Mutation_p.G9S|GIT2_uc001tpw.2_Missense_Mutation_p.G71S|GIT2_uc010sxv.1_Missense_Mutation_p.G71S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	71	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						GAGTTAGCACCGTTATTATAC	0.398		NA											20	47					0	0	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892304	130892304	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:130892304G>T	uc001uil.2	-	16	3056	c.2892C>A	c.(2890-2892)GAC>GAA	p.D964E		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	964	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTCTCTGGGGTCGTAGTCAT	0.552		NA											109	218					4.96e-46	6.53e-46	1	0
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:132491260C>T	uc001ujn.2	+	14	3177	c.3142C>T	c.(3142-3144)CCA>TCA	p.P1048S	EP400_uc001ujl.2_Missense_Mutation_p.P1047S|EP400_uc001ujm.2_Missense_Mutation_p.P1048S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398		NA											20	21					0	0	0	0
LIG4	3981	broad.mit.edu	37	13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr13:108861972T>A	uc001vqn.2	-	2	1918	c.1645A>T	c.(1645-1647)ATT>TTT	p.I549F	LIG4_uc001vqo.2_Missense_Mutation_p.I549F|LIG4_uc010agg.1_Missense_Mutation_p.I482F|LIG4_uc010agf.2_Missense_Mutation_p.I549F|LIG4_uc001vqp.2_Missense_Mutation_p.I549F	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	549					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403		NA						NHEJ					34	13					0	0	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:24464313A>C	uc001wli.3	+	3	509	c.379A>C	c.(379-381)ATG>CTG	p.M127L	DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_RNA|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Intron|DHRS4L2_uc010alb.2_Missense_Mutation_p.M1L	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							binding|oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522		NA											9	659					0	0	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:36207835C>T	uc001wti.2	-	12	1862	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	RALGAPA1_uc001wtj.2_Missense_Mutation_p.D491N|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D491N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D491N|RALGAPA1_uc001wtk.1_Missense_Mutation_p.D342N	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	491					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CGAACATGATCAGCAGTATTG	0.388		NA											5	133					0	0	0	0
DCAF4	26094	broad.mit.edu	37	14	73404779	73404779	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:73404779G>A	uc001xng.2	+	2	312	c.92_splice	c.e2+1	p.R31_splice	DCAF4_uc001xnj.2_Splice_Site_p.R31_splice|DCAF4_uc010ttr.1_Splice_Site_p.G20_splice|DCAF4_uc001xnh.2_Intron|DCAF4_uc010tts.1_Splice_Site_p.R31_splice|DCAF4_uc010ttt.1_Splice_Site|DCAF4_uc001xni.2_Splice_Site_p.R31_splice|DCAF4_uc001xnk.2_Splice_Site_p.R31_splice	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1							CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CTGAAGACAGGCAAGTGTGCC	0.483		NA											64	33					0	0	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:102391561G>C	uc001yko.2	+	14	1667	c.1527G>C	c.(1525-1527)TTG>TTC	p.L509F	PPP2R5C_uc010txr.1_Missense_Mutation_p.L540F|PPP2R5C_uc001ykk.2_Missense_Mutation_p.L525F|PPP2R5C_uc001ykp.2_Missense_Mutation_p.L470F	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	509					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						AGAAAGCCTTGGAAGCTCACT	0.493		NA											64	27					0	0	0	0
ISLR2	57611	broad.mit.edu	37	15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:74425610C>A	uc002axd.2	+	4	1284	c.515C>A	c.(514-516)GCG>GAG	p.A172E	ISLR2_uc002axe.2_Missense_Mutation_p.A172E|ISLR2_uc010bjg.2_Missense_Mutation_p.A172E|ISLR2_uc010bjf.2_Missense_Mutation_p.A172E	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	172	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GCGCTTAGCGCGCTGTCACAC	0.667		NA											81	10					1.16e-35	1.52e-35	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:84582032C>A	uc002bjz.3	+	16	2113	c.1889C>A	c.(1888-1890)GCC>GAC	p.A630D	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A630D|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.A630D	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	630						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612		NA											58	14					6.61e-23	8.37e-23	1	0
AXIN1	8312	broad.mit.edu	37	16	343545	343545	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343545G>C	uc002cgp.1	-	8	2306	c.2129C>G	c.(2128-2130)GCG>GGG	p.A710G	AXIN1_uc002cgq.1_Missense_Mutation_p.A710G	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	710	Interaction with RNF111.|Interaction with PPP2CA.|Interaction with HIPK2 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACGTCGGCGCGCCTCCTCCAG	0.667		NA											81	24					0	0	0	0
AXIN1	8312	broad.mit.edu	37	16	343549	343549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343549C>T	uc002cgp.1	-	8	2302	c.2125G>A	c.(2125-2127)GAG>AAG	p.E709K	AXIN1_uc002cgq.1_Missense_Mutation_p.E709K	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	709	Interaction with RNF111.|Interaction with PPP2CA.|Interaction with HIPK2 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGCGCGCCTCCTCCAGCTGG	0.677		NA											86	25					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3788605	3788605	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:3788605T>C	uc002cvv.2	-	26	4553	c.4349A>G	c.(4348-4350)TAC>TGC	p.Y1450C	CREBBP_uc002cvw.2_Missense_Mutation_p.Y1412C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1450	Cys/His-rich.		Y -> H (in RSTS1).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Y1450C(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATCTCATGGTAAACGGCTGT	0.398		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				20	3					0	0	0	0
VWA3A	146177	broad.mit.edu	37	16	22134933	22134933	+	Splice_Site	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:22134933G>T	uc010vbq.1	+	16	1534	c.1438_splice	c.e16-1	p.Q480_splice	VWA3A_uc010bxd.2_Splice_Site|VWA3A_uc010bxc.2_Splice_Site_p.Q488_splice	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572		NA											38	85					2.36e-33	3.08e-33	1	0
PALB2	79728	broad.mit.edu	37	16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23646401G>A	uc002dlx.1	-	4	1666	c.1466C>T	c.(1465-1467)TCT>TTT	p.S489F		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468		NA	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				21	163					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72830446	72830446	+	Silent	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:72830446T>G	uc002fck.2	-	9	6808	c.6135A>C	c.(6133-6135)CCA>CCC	p.P2045P	ZFHX3_uc002fcl.2_Silent_p.P1131P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2045	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GTGGAGGGGGTGGAGGGGGAG	0.632		NA											6	59					0	0	0	0
TAF1C	9013	broad.mit.edu	37	16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:84214963G>A	uc002fhn.2	-	10	1441	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	TAF1C_uc002fhm.2_Missense_Mutation_p.R312C|TAF1C_uc010vnx.1_Missense_Mutation_p.R379C|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Missense_Mutation_p.R73C|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Missense_Mutation_p.R73C|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	405					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						ACTCCGGTGCGGTCACCCACG	0.667		NA											15	4					0	0	0	0
MYO1C	4641	broad.mit.edu	37	17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:1386944G>A	uc002fsp.2	-	3	527	c.307C>T	c.(307-309)CGT>TGT	p.R103C	MYO1C_uc002fsn.2_Missense_Mutation_p.R84C|MYO1C_uc002fso.2_Missense_Mutation_p.R68C|MYO1C_uc010vqj.1_Missense_Mutation_p.R68C|MYO1C_uc010vqk.1_Missense_Mutation_p.R79C	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	103	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGGTAACGCTCCATATGC	0.627		NA											6	13					0	0	0	0
ATP2A3	489	broad.mit.edu	37	17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:3854894G>A	uc002fxb.1	-	4	456	c.305C>T	c.(304-306)GCC>GTC	p.A102V	ATP2A3_uc002fwx.1_Missense_Mutation_p.A102V|ATP2A3_uc002fwy.1_Missense_Mutation_p.A102V|ATP2A3_uc002fwz.1_Missense_Mutation_p.A102V|ATP2A3_uc002fxa.1_Missense_Mutation_p.A102V|ATP2A3_uc002fxc.1_Missense_Mutation_p.A102V|ATP2A3_uc002fxd.1_Missense_Mutation_p.A102V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	102	Helical; Name=2; (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)		GCCCACAATGGCGTTGGCCAC	0.687		NA											10	12					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:7578271T>C	uc002gim.2	-	6	772	c.578A>G	c.(577-579)CAT>CGT	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and 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.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			38	8					0	0	0	0
C17orf68	80169	broad.mit.edu	37	17	8138161	8138161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:8138161G>A	uc002gkq.3	-	9	1582	c.1523C>T	c.(1522-1524)GCT>GTT	p.A508V	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	508					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CAGGGTAGGAGCCAGGAGTTG	0.567		NA											51	84					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:21319078A>T	uc002gyv.1	+	3	1129	c.424A>T	c.(424-426)ACC>TCC	p.T142S		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	142				T -> N (in Ref. 2; AAC50615).	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CGAGACGCAGACCACCATCGG	0.657		NA								Prostate(3;0.18)			13	63					0	0	0	0
SLC6A4	6532	broad.mit.edu	37	17	28534763	28534763	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:28534763G>C	uc002hey.3	-	13	2181	c.1637C>G	c.(1636-1638)CCT>CGT	p.P546R	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	546	Helical; Name=11; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAGAAACAGAGGGCTGATGGC	0.512		NA											13	32					0	0	0	0
C17orf75	64149	broad.mit.edu	37	17	30668273	30668273	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:30668273G>A	uc002hhg.2	-	2	202	c.171C>T	c.(169-171)GAC>GAT	p.D57D		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	57					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478		NA											93	148					0	0	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:32963160C>G	uc002hif.2	+	9	2170	c.1842C>G	c.(1840-1842)AGC>AGG	p.S614R		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	614	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632		NA											7	20					0	0	0	0
GGNBP2	79893	broad.mit.edu	37	17	34912940	34912940	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:34912940G>C	uc002hnb.2	+	4	441	c.192G>C	c.(190-192)AAG>AAC	p.K64N	GGNBP2_uc002hna.2_Missense_Mutation_p.K64N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	64					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTATGCTTAAGCAACAGGATC	0.443		NA											55	75					0	0	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39274087G>C	uc002hvz.2	-	1	520	c.481C>G	c.(481-483)CTG>GTG	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.323		NA											4	21					0	0	0	0
KRT32	3882	broad.mit.edu	37	17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39616390C>A	uc002hwr.2	-	7	1380	c.1319G>T	c.(1318-1320)TGC>TTC	p.C440F		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647		NA											15	22					0.000422831	0.000456799	1	0
FAM134C	162427	broad.mit.edu	37	17	40734008	40734008	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:40734008C>A	uc002ial.2	-	9	1327	c.1224G>T	c.(1222-1224)CTG>CTT	p.L408L	FAM134C_uc010wgq.1_Silent_p.L208L|FAM134C_uc002iam.1_Silent_p.L208L|FAM134C_uc010cyk.1_Silent_p.L311L	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	408						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGACAAGGCCAGCTGAATCA	0.622		NA											27	47					2.8e-10	3.31e-10	1	0
GRN	2896	broad.mit.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:42429495C>T	uc002igp.1	+	11	1511	c.1292C>T	c.(1291-1293)GCC>GTC	p.A431V	GRN_uc002igr.1_Missense_Mutation_p.A225V	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	431					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667		NA											55	57					0	0	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:48699024C>A	uc002irk.1	+	35	6301	c.5929C>A	c.(5929-5931)CCT>ACT	p.P1977T	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.P1954T|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.P1906T|CACNA1G_uc002iru.1_Missense_Mutation_p.P1943T|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.P1879T|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1977	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562		NA											13	28					9.31e-06	1.03e-05	1	0
STXBP4	252983	broad.mit.edu	37	17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:53120624G>A	uc002iuf.1	+	11	1090	c.883G>A	c.(883-885)GAT>AAT	p.D295N	STXBP4_uc010dcc.1_Missense_Mutation_p.D220N|STXBP4_uc010dcd.1_Missense_Mutation_p.D295N	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295	Potential.					cytoplasm	calcium ion binding			ovary(1)	1						TTCAGAAGCAGATGAAATGGA	0.313		NA											5	9					0	0	0	0
APOH	350	broad.mit.edu	37	17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:64224252G>C	uc002jfn.3	-	2	186	c.127C>G	c.(127-129)CCA>GCA	p.P43A		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	43	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483		NA											76	97					0	0	0	0
CD300E	342510	broad.mit.edu	37	17	72613588	72613588	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:72613588C>T	uc002jlb.1	-	2	98	c.57G>A	c.(55-57)ACG>ACA	p.T19T		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule precursor	19	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						AGCCGGGGCCCTTCAGAGACA	0.552		NA											25	18					0	0	0	0
SFRS2	6427	broad.mit.edu	37	17	74732524	74732524	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:74732524G>C	uc002jsv.2	-	2	555	c.385C>G	c.(385-387)CGA>GGA	p.R129G	SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R129G|SFRS2_uc010wtg.1_Missense_Mutation_p.R117G|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	NM_003016	NP_003007	Q01130	SRSF2_HUMAN	splicing factor, arginine/serine-rich 2	129	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity				0						CTCCGGGATCGGCTGCGGCGA	0.547		NA											12	85					0	0	0	0
ZFP161	7541	broad.mit.edu	37	18	5291170	5291170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:5291170G>A	uc002kmq.2	-	4	1198	c.1037C>T	c.(1036-1038)CCA>CTA	p.P346L	ZFP161_uc002kmr.2_Missense_Mutation_p.P346L|ZFP161_uc010dkp.2_Missense_Mutation_p.P346L	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	346	C2H2-type 3.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P346S(1)		ovary(1)	1						CTTTAAGTCTGGGGCACGGAT	0.453		NA											48	76					0	0	0	0
TTC39C	125488	broad.mit.edu	37	18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:21703803C>T	uc002kuw.2	+	9	1644	c.1192C>T	c.(1192-1194)CAG>TAG	p.Q398*	TTC39C_uc002kuu.2_Nonsense_Mutation_p.Q337*	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 1	398							binding			ovary(1)	1						TACAGTTTGTCAGGGAGCCAC	0.368		NA											12	22					0	0	0	0
ARID3A	1820	broad.mit.edu	37	19	971943	971943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:971943G>C	uc002lql.2	+	9	1950	c.1660G>C	c.(1660-1662)GGC>CGC	p.G554R		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	554	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Aggcggcggcggcggcggcag	0.547		NA											16	47					0	0	0	0
S1PR4	8698	broad.mit.edu	37	19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:3179935G>A	uc002lxg.2	+	1	1170	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	382	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						TCCAGCGTGCGGAGCATCTGA	0.652		NA											50	55					0	0	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365608	4365608	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4365608G>A	uc002maj.2	-	4	308	c.202C>T	c.(202-204)CTG>TTG	p.L68L	SH3GL1_uc002mak.2_Silent_p.L68L|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	68	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCATGGTCAGCTTAGCCCGC	0.662		NA	T	MLL	AL								40	47					0	0	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4498321A>G	uc002mao.2	+	12	1514	c.1421A>G	c.(1420-1422)AAG>AGG	p.K474R	HDGFRP2_uc002map.2_Missense_Mutation_p.K474R|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'Flank|HDGFRP2_uc002maq.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	474					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GTGGAGGAGAAGCTGCAGAAG	0.647		NA											25	19					0	0	0	0
DOCK6	57572	broad.mit.edu	37	19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11323947G>A	uc002mqs.3	-	35	4437	c.4396C>T	c.(4396-4398)CTC>TTC	p.L1466F	DOCK6_uc010xlq.1_Missense_Mutation_p.L805F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGTCGTAGGAGCCTCAGGCAC	0.652		NA											12	30					0	0	0	0
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11943141C>T	uc002msp.1	+	4	1306	c.1150C>T	c.(1150-1152)CGA>TGA	p.R384*		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGTTCCCTTCGATATCATGA	0.433		NA											27	22					0	0	0	0
ZNF85	7639	broad.mit.edu	37	19	21132175	21132175	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:21132175C>A	uc002npg.3	+	4	982	c.855C>A	c.(853-855)CCC>CCA	p.P285P	ZNF85_uc010ecn.2_Silent_p.P220P|ZNF85_uc010eco.2_Silent_p.P233P|ZNF85_uc002npi.2_Silent_p.P226P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						GAGAGAAACCCTACAAATGTA	0.353		NA											13	15					0.00185496	0.00198201	1	0
TMEM147	10430	broad.mit.edu	37	19	36037859	36037859	+	Silent	SNP	A	A	G	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:36037859A>G	uc002oaj.1	+	5	454	c.357A>G	c.(355-357)CTA>CTG	p.L119L	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.L70L|TMEM147_uc002oak.1_Silent_p.L74L	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562		NA											55	57					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	39013683	39013683	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39013683G>A	uc002oit.2	+	68	10405	c.10275G>A	c.(10273-10275)ACG>ACA	p.T3425T	RYR1_uc002oiu.2_Silent_p.T3425T|RYR1_uc002oiv.1_Silent_p.T345T|RYR1_uc010xuf.1_Silent_p.T345T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGGCTGACGGAGCCGAATC	0.662		NA											12	8					0	0	0	0
RINL	126432	broad.mit.edu	37	19	39361466	39361466	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39361466C>T	uc002ojq.2	-	8	814	c.426G>A	c.(424-426)GAG>GAA	p.E142E	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.E256E	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	142							GTPase activator activity			pancreas(1)	1						TGAGCACGTCCTCAGGGCCTT	0.617		NA											29	82					0	0	0	0
ADCK4	79934	broad.mit.edu	37	19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:41206235T>G	uc002oor.2	-	11	1317	c.1015A>C	c.(1015-1017)AGC>CGC	p.S339R	ADCK4_uc002oop.1_Missense_Mutation_p.S16R|ADCK4_uc002ooq.1_Missense_Mutation_p.S298R	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	339	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672		NA											17	47					0	0	0	0
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:53644453C>T	uc002qbb.1	-	5	1697	c.1628G>A	c.(1627-1629)TGT>TAT	p.C543Y	ZNF347_uc010eql.1_Missense_Mutation_p.C544Y|ZNF347_uc002qbc.1_Missense_Mutation_p.C544Y	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398		NA											60	51					0	0	0	0
UBE2M	9040	broad.mit.edu	37	19	59068277	59068277	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:59068277C>T	uc002qtl.3	-	3	820	c.225G>A	c.(223-225)AAG>AAA	p.K75K	CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567		NA											25	10					0	0	0	0
C2orf39	92749	broad.mit.edu	37	2	26654844	26654844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:26654844G>T	uc002rhg.2	+	7	932	c.858G>T	c.(856-858)ATG>ATT	p.M286I	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	286	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATACAACATGATCAAGATCA	0.498		NA											34	43					2.85e-18	3.52e-18	1	0
LTBP1	4052	broad.mit.edu	37	2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:33482371C>A	uc002ros.2	+	12	2188	c.2188C>A	c.(2188-2190)CCT>ACT	p.P730T	LTBP1_uc002rot.2_Missense_Mutation_p.P404T|LTBP1_uc002rou.2_Missense_Mutation_p.P404T|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Missense_Mutation_p.P404T|LTBP1_uc010yna.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	730					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393		NA											29	39					5.97e-30	7.74e-30	1	0
AFF3	3899	broad.mit.edu	37	2	100368683	100368683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:100368683C>A	uc002tag.2	-	8	1238	c.1002G>T	c.(1000-1002)AAG>AAT	p.K334N	AFF3_uc002taf.2_Missense_Mutation_p.K359N|AFF3_uc010fiq.1_Missense_Mutation_p.K334N|AFF3_uc010yvr.1_Missense_Mutation_p.K488N|AFF3_uc002tah.1_Missense_Mutation_p.K359N|AFF3_uc010fir.1_Missense_Mutation_p.K411N	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	334					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AAGATCTCACCTTATTTGGAA	0.443		NA											20	44					8.1e-08	9.24e-08	1	0
LRP1B	53353	broad.mit.edu	37	2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:141359067A>T	uc002tvj.1	-	42	7913	c.6941T>A	c.(6940-6942)ATG>AAG	p.M2314K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2314	Extracellular (Potential).|LDL-receptor class B 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428		NA								TSP Lung(27;0.18)			13	36					0	0	0	0
PKP4	8502	broad.mit.edu	37	2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:159519912A>T	uc002tzv.2	+	15	2792	c.2532A>T	c.(2530-2532)GAA>GAT	p.E844D	PKP4_uc002tzu.2_Missense_Mutation_p.E844D|PKP4_uc002tzw.2_Missense_Mutation_p.E844D|PKP4_uc002tzx.2_Missense_Mutation_p.E501D|PKP4_uc002uaa.2_Missense_Mutation_p.E696D|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.E25D	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	844	ARM 7.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CCACCTTGGAAGGCTCTGCAG	0.493		NA								HNSCC(62;0.18)			34	54					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:179581995C>A	uc010zfg.1	-	85	21958	c.21734G>T	c.(21733-21735)TGG>TTG	p.W7245L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.W3906L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8172							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)			ATCTTTGGCCCAAGTGATTTT	0.428		NA											34	37					4.32e-19	5.36e-19	1	0
C20orf26	26074	broad.mit.edu	37	20	20177278	20177278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:20177278G>A	uc002wru.2	+	16	1731	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H	C20orf26_uc010zse.1_Missense_Mutation_p.R532H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	552										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CACCACCAGCGCGAAGAACAC	0.463		NA											42	80					0	0	0	0
NEURL2	140825	broad.mit.edu	37	20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:44519288T>C	uc002xqg.1	-	1	614	c.343A>G	c.(343-345)ATC>GTC	p.I115V	CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	115	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706		NA											46	9					0	0	0	0
APCDD1L	164284	broad.mit.edu	37	20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:57045686T>G	uc002xze.1	-	2	353	c.167A>C	c.(166-168)AAT>ACT	p.N56T	APCDD1L_uc010zzp.1_Missense_Mutation_p.N67T	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	56						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617		NA											7	10					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	10942773	10942773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:10942773A>G	uc002yip.1	-	13	1036	c.668T>C	c.(667-669)GTT>GCT	p.V223A	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V205A|TPTE_uc002yir.1_Missense_Mutation_p.V185A|TPTE_uc010gkv.1_Missense_Mutation_p.V85A	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	223					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTCTGAAACCTGACAGTT	0.348		NA											51	289					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22881352	22881352	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:22881352T>A	uc002yld.1	+	16	2507	c.2258T>A	c.(2257-2259)CTC>CAC	p.L753H	NCAM2_uc011acb.1_Missense_Mutation_p.L611H	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	753	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTAAAGAACTCGAAGAAGGA	0.463		NA											30	31					0	0	0	0
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:30419482C>A	uc002ymy.2	+	14	2053	c.1851C>A	c.(1849-1851)TTC>TTA	p.F617L	USP16_uc002ymx.2_Missense_Mutation_p.F616L|USP16_uc002ymw.2_Missense_Mutation_p.F617L|USP16_uc011acm.1_Missense_Mutation_p.F602L|USP16_uc011acn.1_Missense_Mutation_p.F283L|USP16_uc011aco.1_Missense_Mutation_p.F307L	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						AAACTGCTTTCTGTACTCTTG	0.363		NA											62	13					9.5e-31	1.23e-30	1	0
TOP3B	8940	broad.mit.edu	37	22	22318364	22318364	+	Missense_Mutation	SNP	G	G	A	rs143308485	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:22318364G>A	uc002zvs.2	-	11	1570	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.R104W|TOP3B_uc010gtl.2_Missense_Mutation_p.R379W|TOP3B_uc002zvt.3_Missense_Mutation_p.R379W	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	379					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGGCCTTTCCGCGGGCGGTTG	0.607		NA											49	10					0	0	0	0
TNRC6B	23112	broad.mit.edu	37	22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:40658079G>T	uc011aor.1	+	4	570	c.359G>T	c.(358-360)GGT>GTT	p.G120V	TNRC6B_uc003aym.2_Missense_Mutation_p.G156V|TNRC6B_uc003ayn.3_Missense_Mutation_p.G120V|TNRC6B_uc003ayo.2_5'Flank	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	120					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CTCCTTGGGGGTGGGGCAGGG	0.632		NA											8	1					0.00448238	0.00477631	1	0
SRGAP3	9901	broad.mit.edu	37	3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:9055160C>A	uc003brf.1	-	17	2655	c.1979G>T	c.(1978-1980)GGG>GTG	p.G660V	SRGAP3_uc003brg.1_Missense_Mutation_p.G636V	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527		NA	T	RAF1	pilocytic astrocytoma								8	36					5.18e-06	5.77e-06	1	0
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:36873305C>A	uc003cgj.2	-	12	6289	c.5987G>T	c.(5986-5988)CGG>CTG	p.R1996L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTCAATCTCCCGGAAGTGGCG	0.582		NA											38	10					1.36e-19	1.7e-19	1	0
CBLB	868	broad.mit.edu	37	3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:105572471T>C	uc003dwc.2	-	3	528	c.206A>G	c.(205-207)AAT>AGT	p.N69S	CBLB_uc011bhi.1_Missense_Mutation_p.N91S|CBLB_uc003dwd.1_Missense_Mutation_p.N69S|CBLB_uc003dwe.1_Missense_Mutation_p.N69S|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	69	Cbl-PTB.|4H.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						TGGTGGGCTATTTTTCAACTG	0.289		NA	Mis S		AML								58	6					0	0	0	0
IGSF11	152404	broad.mit.edu	37	3	118623581	118623581	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:118623581A>T	uc003ebw.2	-	6	1015	c.768T>A	c.(766-768)TTT>TTA	p.F256L	IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.F232L|IGSF11_uc003eby.2_Missense_Mutation_p.F255L|IGSF11_uc003ebz.2_Missense_Mutation_p.F231L|IGSF11_uc010hqs.2_Missense_Mutation_p.F255L	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	256	Helical; (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GTGCAATGCAAAAAATGATAA	0.348		NA											81	137					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171431702	171431702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:171431702G>A	uc003fhs.2	-	9	1008	c.892C>T	c.(892-894)CGA>TGA	p.R298*	PLD1_uc003fht.2_Nonsense_Mutation_p.R298*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	298	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTATCAATTCGGATTCCATAT	0.338		NA											86	9					0	0	0	0
DGKG	1608	broad.mit.edu	37	3	185986617	185986617	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:185986617C>T	uc003fqa.2	-	12	1626	c.1089G>A	c.(1087-1089)GCG>GCA	p.A363A	DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Silent_p.A363A|DGKG_uc011brx.1_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	363	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGCAGTGCCGCGCGGTGACAC	0.612		NA											21	30					0	0	0	0
TECRL	253017	broad.mit.edu	37	4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:65274963A>G	uc003hcv.2	-	1	216	c.107T>C	c.(106-108)TTG>TCG	p.L36S	TECRL_uc003hcw.2_Missense_Mutation_p.L36S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	36					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						AAGTTTTGACAAAAAGTGAAA	0.413		NA											12	40					0	0	0	0
C4orf35	85438	broad.mit.edu	37	4	71201892	71201892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:71201892A>T	uc003hff.2	+	1	1222	c.1136A>T	c.(1135-1137)GAA>GTA	p.E379V		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	379						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TCCACAACTGAAACGGATATC	0.398		NA											29	12					0	0	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:73984419C>G	uc003hgp.2	-	22	4291	c.4174G>C	c.(4174-4176)GCA>CCA	p.A1392P	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1279P|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1141P|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1391P|ANKRD17_uc011cbd.1_Missense_Mutation_p.A957P	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1392	ANK 25.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423		NA											47	19					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128796153	128796153	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:128796153C>T	uc003kvb.1	+	1	51	c.51C>T	c.(49-51)TTC>TTT	p.F17F	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	17					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCTGGGGTTCCTGTCGAATG	0.622		NA											56	19					0	0	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:140734960C>T	uc003ljq.1	+	1	193	c.193C>T	c.(193-195)CGC>TGC	p.R65C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R65C	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647		NA											51	23					0	0	0	0
KIF13A	63971	broad.mit.edu	37	6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:17764996C>A	uc003ncg.3	-	39	4868	c.4763G>T	c.(4762-4764)CGT>CTT	p.R1588L	KIF13A_uc003ncf.2_Missense_Mutation_p.R1540L|KIF13A_uc003nch.3_Missense_Mutation_p.R1553L|KIF13A_uc003nci.3_Missense_Mutation_p.R1540L|KIF13A_uc003nce.1_Missense_Mutation_p.R139L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1588					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502		NA											11	6					3.86e-05	4.24e-05	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:26217266G>A	uc003nha.1	+	1	119	c.64G>A	c.(64-66)GCC>ACC	p.A22T	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577		NA											22	12					0	0	0	0
TNRC18	84629	broad.mit.edu	37	7	5391493	5391493	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:5391493C>T	uc003soi.3	-	17	5776	c.5427G>A	c.(5425-5427)GCG>GCA	p.A1809A	TNRC18_uc003soj.2_Silent_p.A191A	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592		NA											15	12					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:18625006G>A	uc003suh.2	+	2	166	c.125G>A	c.(124-126)CGT>CAT	p.R42H	HDAC9_uc003sue.2_Missense_Mutation_p.R42H|HDAC9_uc011jyd.1_Missense_Mutation_p.R42H|HDAC9_uc003sui.2_Missense_Mutation_p.R42H|HDAC9_uc003suj.2_Missense_Mutation_p.R42H|HDAC9_uc011jya.1_Missense_Mutation_p.R83H|HDAC9_uc003sua.1_Missense_Mutation_p.R61H|HDAC9_uc011jyb.1_Missense_Mutation_p.R42H|HDAC9_uc003sud.1_Missense_Mutation_p.R42H|HDAC9_uc011jyc.1_Missense_Mutation_p.R42H|HDAC9_uc003suf.1_Missense_Mutation_p.R70H|HDAC9_uc010kud.1_Missense_Mutation_p.R42H|HDAC9_uc011jye.1_Missense_Mutation_p.R11H|HDAC9_uc011jyf.1_Missense_Mutation_p.R11H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493		NA											48	87					0	0	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874174	24874174	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:24874174G>A	uc003sxf.2	-	15	2082	c.1677C>T	c.(1675-1677)CTC>CTT	p.L559L	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L523L|OSBPL3_uc003sxh.2_Silent_p.L528L|OSBPL3_uc003sxi.2_Silent_p.L492L|OSBPL3_uc003sxj.1_Silent_p.L288L|OSBPL3_uc003sxk.1_Silent_p.L257L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	559					lipid transport		lipid binding|protein binding			skin(1)	1						GCTCCTCGCAGAGCCTCTGCA	0.617		NA											44	68					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:40037230C>G	uc003thh.3	+	3	2291	c.2009C>G	c.(2008-2010)ACA>AGA	p.T670R	CDK13_uc003thi.3_Missense_Mutation_p.T670R|CDK13_uc011kbf.1_Missense_Mutation_p.T56R	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	670					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.T670R(1)		lung(2)|skin(2)|ovary(1)	5						GAAAAGAAAACAGCAACACAG	0.433		NA											3	123					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43503399	43503399	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:43503399G>A	uc003tid.1	+	14	3396	c.2791_splice	c.e14+1	p.D931_splice	HECW1_uc011kbi.1_Splice_Site_p.D897_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TCCAGCTTAGGTATTGGAGGA	0.602		NA											61	82					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:45614734G>T	uc003tne.3	+	1	610	c.592G>T	c.(592-594)GTC>TTC	p.V198F	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	198	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCACTTGCTGGTCACAGCCAC	0.642		NA											17	27					2.58e-16	3.15e-16	1	0
COL1A2	1278	broad.mit.edu	37	7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94038122C>A	uc003ung.1	+	16	1250	c.779C>A	c.(778-780)GCC>GAC	p.A260D	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	260					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCCCAGGTGCCCCTGGCCCC	0.433		NA								HNSCC(75;0.22)			7	63					1.26e-09	1.48e-09	1	0
PON3	5446	broad.mit.edu	37	7	94996800	94996800	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94996800T>C	uc003unt.2	-	5	393	c.368A>G	c.(367-369)GAC>GGC	p.D123G	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.D171G	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	123					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CACAGTATTGTCTACATGGAA	0.313		NA											85	63					0	0	0	0
ASNS	440	broad.mit.edu	37	7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:97488686G>A	uc003uot.3	-	5	1018	c.512C>T	c.(511-513)GCG>GTG	p.A171V	ASNS_uc011kin.1_Missense_Mutation_p.A88V|ASNS_uc003uou.3_Missense_Mutation_p.A171V|ASNS_uc003uov.3_Missense_Mutation_p.A171V|ASNS_uc011kio.1_Missense_Mutation_p.A150V|ASNS_uc003uow.3_Missense_Mutation_p.A150V|ASNS_uc003uox.3_Missense_Mutation_p.A88V	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368		NA											39	63					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100676474A>G	uc003uxp.1	+	3	1830	c.1777A>G	c.(1777-1779)ACT>GCT	p.T593A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	593	Extracellular (Potential).|7.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478		NA											8	665					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100684754	100684754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100684754G>A	uc003uxp.1	+	3	10110	c.10057G>A	c.(10057-10059)GTC>ATC	p.V3353I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3353	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCAGTGGTCAGTTCTGA	0.483		NA											450	370					0	0	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100771855G>A	uc003uxt.2	+	2	329	c.181G>A	c.(181-183)GGG>AGG	p.G61R	SERPINE1_uc011kkj.1_Missense_Mutation_p.G46R|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	61					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592		NA											37	37					0	0	0	0
SRPK2	6733	broad.mit.edu	37	7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:104787081G>T	uc003vct.2	-	7	800	c.613C>A	c.(613-615)CAC>AAC	p.H205N	SRPK2_uc003vcu.2_Missense_Mutation_p.H205N|SRPK2_uc003vcv.2_Missense_Mutation_p.H216N|SRPK2_uc003vcw.1_Missense_Mutation_p.H205N	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	205	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CACTTACTGTGTAAGTAATCT	0.338		NA											10	37					3.04e-14	3.65e-14	1	0
BCAP29	55973	broad.mit.edu	37	7	107234422	107234422	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107234422A>G	uc003vej.2	+	4	555	c.216A>G	c.(214-216)AAA>AAG	p.K72K	BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Silent_p.K72K|BCAP29_uc011kma.1_Silent_p.K72K	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	72	Lumenal (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						AAGTAAGGAAATATTCCTCAG	0.353		NA											49	33					0	0	0	0
NRCAM	4897	broad.mit.edu	37	7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107831704C>T	uc003vfb.2	-	19	2398	c.1927G>A	c.(1927-1929)GTT>ATT	p.V643I	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Missense_Mutation_p.V638I|NRCAM_uc003vfd.2_Missense_Mutation_p.V619I|NRCAM_uc003vfe.2_Missense_Mutation_p.V619I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	643	Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TTACCGTAAACGGGAGCTGGA	0.318		NA											9	15					0	0	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154727	108154727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:108154727C>T	uc003vff.1	-	5	1474	c.1067G>A	c.(1066-1068)AGG>AAG	p.R356K	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R356K|PNPLA8_uc003vfi.1_Missense_Mutation_p.R256K|PNPLA8_uc003vfj.1_Missense_Mutation_p.R356K|PNPLA8_uc003vfk.1_Missense_Mutation_p.R256K	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	356					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						AATACTCACCCTTGCGATAAT	0.348		NA											157	156					0	0	0	0
HYAL4	23553	broad.mit.edu	37	7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:123508362G>A	uc003vlc.2	+	3	673	c.35G>A	c.(34-36)TGT>TAT	p.C12Y	HYAL4_uc011knz.1_Missense_Mutation_p.C12Y	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12	Helical; (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TTAAAGCTTTGTGTTGTTCAA	0.348		NA											42	75					0	0	0	0
FLNC	2318	broad.mit.edu	37	7	128488731	128488731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:128488731C>G	uc003vnz.3	+	27	4906	c.4697C>G	c.(4696-4698)GCA>GGA	p.A1566G	FLNC_uc003voa.3_Missense_Mutation_p.A1566G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1566	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACCATCGACGCACGGGACGCG	0.662		NA											41	133					0	0	0	0
KLF14	136259	broad.mit.edu	37	7	130418557	130418557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:130418557C>T	uc003vqk.1	-	1	304	c.304G>A	c.(304-306)GAG>AAG	p.E102K		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(18;0.0435)					CCCGAGTTCTCCCAGGAGCCC	0.587		NA											4	5					0	0	0	0
EPHB6	2051	broad.mit.edu	37	7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:142568363G>T	uc011kst.1	+	19	3669	c.2882G>T	c.(2881-2883)GGA>GTA	p.G961V	EPHB6_uc011ksu.1_Missense_Mutation_p.G961V|EPHB6_uc003wbs.2_Missense_Mutation_p.G669V|EPHB6_uc003wbt.2_Missense_Mutation_p.G435V|EPHB6_uc003wbu.2_Missense_Mutation_p.G669V|EPHB6_uc003wbv.2_Missense_Mutation_p.G345V	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	961	SAM.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597		NA											36	127					9.18e-22	1.15e-21	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:150325295G>A	uc003whn.2	-	3	815	c.391C>T	c.(391-393)CAA>TAA	p.Q131*	GIMAP6_uc003whm.2_Nonsense_Mutation_p.Q51*	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632		NA											17	89					0	0	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864434	22864434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:22864434C>T	uc003xcq.2	+	5	1213	c.676C>T	c.(676-678)CGG>TGG	p.R226W	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R248W|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R233W|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	226					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAATGTGCAGCGGCCTCTGCT	0.662		NA											52	19					0	0	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243522	23243522	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:23243522A>T	uc011kzu.1	-	13	1907	c.1635T>A	c.(1633-1635)GGT>GGA	p.G545G	LOXL2_uc003xdh.1_Intron	NM_001128930	NP_001122402	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	Error:Variant_position_missing_in_Q9Y227_after_alignment					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gCTTTGGacaaccccctgagc	0.015		NA											39	14					0	0	0	0
CLVS1	157807	broad.mit.edu	37	8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:62289235A>G	uc003xuh.2	+	3	851	c.527A>G	c.(526-528)CAG>CGG	p.Q176R	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.Q176R	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	176	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						CCGGAGCTTCAGATAAATGGC	0.448		NA											3	82					0	0	0	0
TRHR	7201	broad.mit.edu	37	8	110099852	110099852	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110099852C>A	uc003ymz.3	+	1	127	c.111C>A	c.(109-111)GGC>GGA	p.G37G		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37	Helical; Name=1; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507		NA											38	53					3.21e-22	4.06e-22	1	0
KCNV1	27012	broad.mit.edu	37	8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110980617G>T	uc003ynr.3	-	3	1545	c.1203C>A	c.(1201-1203)GAC>GAA	p.D401E	KCNV1_uc010mcw.2_Missense_Mutation_p.D401E	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401						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)			CTGTGGTGGTGTCTGGTCTAA	0.478		NA											43	73					4.67e-22	5.88e-22	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:21971029C>T	uc003zpk.2	-	2	541	c.329G>A	c.(328-330)TGG>TAG	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			43	5					0	0	0	0
KIAA1958	158405	broad.mit.edu	37	9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:115407987A>G	uc004bgf.1	+	3	1404	c.1229A>G	c.(1228-1230)GAT>GGT	p.D410G	KIAA1958_uc011lwx.1_Missense_Mutation_p.D438G	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	410										skin(1)	1						GACTTGAATGATCTGTGTACC	0.383		NA											16	40					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:139412359C>T	uc004chz.2	-	8	1286	c.1286G>A	c.(1285-1287)TGC>TAC	p.C429Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	429	Extracellular (Potential).|EGF-like 11; calcium-binding (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)		CGTGTTGATGCACTTGCCCGC	0.662		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			38	37					0	0	0	0
CXorf22	170063	broad.mit.edu	37	X	35966561	35966561	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:35966561A>G	uc004ddj.2	+	4	707	c.648A>G	c.(646-648)GAA>GAG	p.E216E	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	216										large_intestine(1)|lung(1)|ovary(1)	3						TTGTAGATGAAGAGGCAATGT	0.373		NA											37	9					0	0	0	0
ZNF157	7712	broad.mit.edu	37	X	47271931	47271931	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:47271931A>C	uc004dhr.1	+	4	528	c.459A>C	c.(457-459)AAA>AAC	p.K153N		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	153					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTAGACGTAAAAGAACACCCA	0.383		NA											21	5					0	0	0	0
FOXR2	139628	broad.mit.edu	37	X	55650824	55650824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:55650824C>T	uc004duo.2	+	1	992	c.680C>T	c.(679-681)CCC>CTC	p.P227L		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	227	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3						CAGCATTTCCCCTTTTTCTGG	0.498		NA											52	7					0	0	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857639	101857639	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:101857639A>T	uc004ejg.2	+	6	1451	c.570A>T	c.(568-570)GAA>GAT	p.E190D	ARMCX5_uc004ejh.2_Missense_Mutation_p.E190D	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	190							binding			ovary(1)	1						GGCCTGAAGAAGAGACCTCTC	0.448		NA											74	12					0	0	0	0
FAM70A	55026	broad.mit.edu	37	X	119421060	119421060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:119421060G>T	uc004eso.3	-	5	599	c.372C>A	c.(370-372)TAC>TAA	p.Y124*	FAM70A_uc004esp.3_Nonsense_Mutation_p.Y124*|FAM70A_uc010nqo.2_Nonsense_Mutation_p.Y124*	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	124						integral to membrane				lung(1)|breast(1)	2						ACCGGTTAGCGTAGAGTGGTT	0.448		NA											6	173					2.77e-08	3.2e-08	1	0
SPANXE	171489	broad.mit.edu	37	X	140785697	140785697	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:140785697T>C	uc004fbq.2	-	2	312	c.219A>G	c.(217-219)CGA>CGG	p.R73R		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	73						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTGTTCTTTCGGGCGTGGT	0.433		NA											178	49					0	0	0	0
CABC1	56997	broad.mit.edu	37	1	227152980	227152993	+	Frame_Shift_Del	DEL	TTCTCTGCCATGGG	TTCTCTGCCATGGG	-	rs147812454		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:227152980_227152993delTTCTCTGCCATGGG	uc001hqm.1	+	8	3876_3889	c.457_470delTTCTCTGCCATGGG	c.(457-471)TTCTCTGCCATGGGCfs	p.F153fs	CABC1_uc010pvp.1_Frame_Shift_Del_p.F116fs|CABC1_uc001hqn.1_Frame_Shift_Del_p.F153fs|CABC1_uc009xeq.1_Frame_Shift_Del_p.F101fs|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	153_157					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA	0.636		NA											9	40	---	---	---	---	NA	NA	NA	NA
NUP133	55746	broad.mit.edu	37	1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:229625736delG	uc001htn.2	-	9	1252	c.1160delC	c.(1159-1161)ACTfs	p.T387fs		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348		NA											15	24	---	---	---	---	NA	NA	NA	NA
SCNN1B	6338	broad.mit.edu	37	16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-	rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23391989delG	uc002dln.2	+	13	1966	c.1790delG	c.(1789-1791)CGCfs	p.R597fs		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	597	Cytoplasmic (By similarity).		R -> H.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711		NA											23	40	---	---	---	---	NA	NA	NA	NA
LAT	27040	broad.mit.edu	37	16	29000849	29000849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:29000849delG	uc002dsd.2	+	8	934	c.582delG	c.(580-582)ATGfs	p.M194fs	uc010vct.1_Intron|LAT_uc010vdj.1_Frame_Shift_Del_p.M201fs|LAT_uc002dsb.2_Frame_Shift_Del_p.M165fs|LAT_uc002dsc.2_Frame_Shift_Del_p.M164fs|LAT_uc010vdk.1_Frame_Shift_Del_p.M155fs|LAT_uc010vdl.1_Frame_Shift_Del_p.M193fs	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	194	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				TTTCCACAGTGGAGTCCATTG	0.622		NA											39	54	---	---	---	---	NA	NA	NA	NA
HP	3240	broad.mit.edu	37	16	72094177	72094178	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:72094177_72094178delTC	uc002fbr.3	+	7	653_654	c.609_610delTC	c.(607-612)AATCTCfs	p.N203fs	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Frame_Shift_Del_p.N144fs|HP_uc002fbt.3_Frame_Shift_Del_p.N144fs|HP_uc002fbu.1_5'UTR|HP_uc002fbv.3_Frame_Shift_Del_p.N114fs|HP_uc002fbw.3_Frame_Shift_Del_p.N25fs|HP_uc002fbx.3_Frame_Shift_Del_p.N25fs|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	203_204	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CGGCTAAAAATCTCTTCCTGAA	0.465		NA											43	16	---	---	---	---	NA	NA	NA	NA
KIAA1267	284058	broad.mit.edu	37	17	44248899	44248899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:44248899delC	uc002ikb.2	-	1	696	c.611delG	c.(610-612)GGTfs	p.G204fs	KIAA1267_uc002ikc.2_Frame_Shift_Del_p.G204fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.G204fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.G204fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	204						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				ATTGGTCATACCCCCCTTCAA	0.458		NA											53	266	---	---	---	---	NA	NA	NA	NA
ADCYAP1	116	broad.mit.edu	37	18	909477	909478	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:909477_909478delCG	uc010dkg.2	+	5	491_492	c.372_373delCG	c.(370-375)GACGCGfs	p.D124fs	ADCYAP1_uc010dkh.2_Frame_Shift_Del_p.D124fs	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	124_125					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						CGGGGGACGACGCGGAGCCGCT	0.668		NA											67	93	---	---	---	---	NA	NA	NA	NA
ABHD3	171586	broad.mit.edu	37	18	19239184	19239191	+	Frame_Shift_Del	DEL	GTTCAGTG	GTTCAGTG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:19239184_19239191delGTTCAGTG	uc002ktl.2	-	6	922_929	c.782_789delCACTGAAC	c.(781-789)CCACTGAACfs	p.P261fs	ABHD3_uc002ktm.2_Frame_Shift_Del_p.P208fs|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_Frame_Shift_Del_p.P66fs|ABHD3_uc002ktn.2_Frame_Shift_Del_p.P38fs	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	261_263						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						AAAGTAGCCAGTTCAGTGGTTTTTCCAA	0.375		NA											24	92	---	---	---	---	NA	NA	NA	NA
SETBP1	26040	broad.mit.edu	37	18	42643322	42643322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:42643322delA	uc010dni.2	+	6	4746	c.4450delA	c.(4450-4452)AAAfs	p.K1484fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1484						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGCCCAGCAAAAGAGGCCA	0.637		NA							Schinzel-Giedion_syndrome				2	4	---	---	---	---	NA	NA	NA	NA
ZNF492	57615	broad.mit.edu	37	19	22836811	22836811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:22836811delC	uc002nqw.3	+	3	368	c.124delC	c.(124-126)CCCfs	p.P42fs		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTAGCTGAACCCCCAGGTAG	0.413		NA											67	62	---	---	---	---	NA	NA	NA	NA
ZNF404	342908	broad.mit.edu	37	19	44377859	44377881	+	Frame_Shift_Del	DEL	TACAAATGCTTTTCCACATTCAT	TACAAATGCTTTTCCACATTCAT	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT	uc002oxs.3	-	2	485_507	c.476_498delATGAATGTGGAAAAGCATTTGTA	c.(475-498)AATGAATGTGGAAAAGCATTTGTAfs	p.N159fs		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	162_169	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GCTGGAAAACTACAAATGCTTTTCCACATTCATTACATTCATA	0.35		NA											22	54	---	---	---	---	NA	NA	NA	NA
LILRB3	11025	broad.mit.edu	37	19	54746172	54746173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54746172_54746173insT	uc010erh.1	-	3	208_209	c.84_85insA	c.(82-87)AAACCCfs	p.K28fs	LILRA6_uc002qew.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qeh.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc002qek.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qep.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qeq.1_Frame_Shift_Ins_p.K28fs|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc010yep.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc010yeq.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Frame_Shift_Ins_p.K28fs|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	28_29	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGGTGGGTTTGGGGAAGG	0.619		NA											23	56	---	---	---	---	NA	NA	NA	NA
ZFP36L2	678	broad.mit.edu	37	2	43452544	43452545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43452544_43452545insT	uc002rsv.3	-	2	689_690	c.398_399insA	c.(397-399)CACfs	p.H133fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	133					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCAGGAGGTGCTGGCTGCG	0.658		NA											20	27	---	---	---	---	NA	NA	NA	NA
SCAMP1	9522	broad.mit.edu	37	5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:77714718delT	uc003kfl.2	+	5	620	c.463delT	c.(463-465)TTGfs	p.L155fs	SCAMP1_uc010jaa.2_RNA|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_Intron|SCAMP1_uc003kfm.2_5'Flank	NM_004866	NP_004857	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155	Cytoplasmic (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding				0		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338		NA											9	8	---	---	---	---	NA	NA	NA	NA
APC	324	broad.mit.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:112175951_112175952insA	uc010jby.2	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)GAAfs	p.E1554fs	APC_uc011cvt.1_Frame_Shift_Ins_p.E1536fs|APC_uc003kpz.3_Frame_Shift_Ins_p.E1554fs|APC_uc003kpy.3_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.2_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.2_Frame_Shift_Ins_p.E854fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(35)|p.E1554fs*5(2)|p.E1554*(2)|p.?(1)|p.T1556fs*9(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1554fs*11(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			33	14	---	---	---	---	NA	NA	NA	NA
DOCK2	1794	broad.mit.edu	37	5	169472903	169472904	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:169472903_169472904insA	uc003maf.2	+	39	4040_4041	c.3960_3961insA	c.(3958-3963)CAGAACfs	p.Q1320fs	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Frame_Shift_Ins_p.Q812fs	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1320_1321	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTCAGCCAGAACCTGGTAAG	0.584		NA											20	59	---	---	---	---	NA	NA	NA	NA