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
TAS1R1	80835	broad.mit.edu	37	1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:6639390G>A	uc001ant.2	+	6	2272	c.2272G>A	c.(2272-2274)GAG>AAG	p.E758K	TAS1R1_uc001anu.2_Missense_Mutation_p.E504K|TAS1R1_uc001anv.2_Silent_p.T289T|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	758	Cytoplasmic (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572		NA											24	42					0	0	0	0
SPEN	23013	broad.mit.edu	37	1	16257103	16257103	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16257103A>G	uc001axk.1	+	11	4572	c.4368A>G	c.(4366-4368)TCA>TCG	p.S1456S	SPEN_uc010obp.1_Silent_p.S1415S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1456					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCTCTTCATCTCGTGAAG	0.368		NA											11	93					0	0	0	0
IL12RB2	3595	broad.mit.edu	37	1	67787482	67787482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:67787482C>G	uc001ddu.2	+	3	914	c.274C>G	c.(274-276)CTT>GTT	p.L92V	IL12RB2_uc010oqi.1_Missense_Mutation_p.L92V|IL12RB2_uc010oqj.1_Missense_Mutation_p.L92V|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.L92V|IL12RB2_uc010oqm.1_Missense_Mutation_p.L92V|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	92	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						AGTCACAGGTCTTCCCCTTGG	0.423		NA											16	150					0	0	0	0
RPAP2	79871	broad.mit.edu	37	1	92789160	92789160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789160T>A	uc001dot.2	+	8	792	c.683T>A	c.(682-684)CTA>CAA	p.L228Q	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	228						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCTCCATTCTACCAGGAAAC	0.383		NA											18	78					0	0	0	0
RPAP2	79871	broad.mit.edu	37	1	92789163	92789163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789163C>A	uc001dot.2	+	8	795	c.686C>A	c.(685-687)CCA>CAA	p.P229Q	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	229						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCATTCTACCAGGAAACAGA	0.383		NA											19	78					1.16e-05	1.25e-05	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254		NA											4	48					0	0	0	0
SSR2	6746	broad.mit.edu	37	1	155989899	155989899	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:155989899T>A	uc001fmx.2	-	2	140	c.60A>T	c.(58-60)GGA>GGT	p.G20G	SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.G39G|SSR2_uc010pgw.1_Silent_p.G39G	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	20	Lumenal (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTGGCTCCTTCCTCTG	0.468		NA											18	48					0	0	0	0
F11R	50848	broad.mit.edu	37	1	160990822	160990822	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:160990822G>C	uc009wtt.2	-	1	312	c.42C>G	c.(40-42)CTC>CTG	p.L14L	F11R_uc010pjv.1_Silent_p.L14L|F11R_uc001fxe.3_Silent_p.L14L|F11R_uc009wtu.2_Silent_p.L14L|F11R_uc010pjw.1_Intron|F11R_uc001fxf.3_Silent_p.L14L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	14					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		p.L14F(1)		ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCAATATGAAGAGGCACAACA	0.587		NA											8	37					0	0	0	0
CFHR1	3078	broad.mit.edu	37	1	196796099	196796099	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:196796099C>A	uc001gtn.2	+	3	508	c.394C>A	c.(394-396)CGG>AGG	p.R132R	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	132	Sushi 2.				complement activation	extracellular space					0						ATGTGTAGAACGGGGCTGGTC	0.393		NA											24	57					1.85e-09	2.13e-09	1	0
MOSC1	64757	broad.mit.edu	37	1	220986691	220986691	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:220986691G>C	uc001hms.2	+	7	1193	c.945G>C	c.(943-945)GGG>GGC	p.G315G	MOSC1_uc001hmt.2_Silent_p.G332G	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	315	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		CACTCTTTGGGCAGTATTTTG	0.473		NA											13	170					0	0	0	0
C1orf101	257044	broad.mit.edu	37	1	244681992	244681992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:244681992G>C	uc001iam.2	+	8	587	c.528G>C	c.(526-528)ATG>ATC	p.M176I	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.M176I|C1orf101_uc010pym.1_Missense_Mutation_p.M25I|C1orf101_uc010pyn.1_Intron	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	176	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAGAAAATGAGAAGGGGGt	0.299		NA											9	54					0	0	0	0
NLRP3	114548	broad.mit.edu	37	1	247588376	247588376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:247588376C>T	uc001icr.2	+	5	1769	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	NLRP3_uc001ics.2_Missense_Mutation_p.T544M|NLRP3_uc001icu.2_Missense_Mutation_p.T544M|NLRP3_uc001icw.2_Missense_Mutation_p.T544M|NLRP3_uc001icv.2_Missense_Mutation_p.T544M|NLRP3_uc010pyw.1_Missense_Mutation_p.T542M|NLRP3_uc001ict.1_Missense_Mutation_p.T542M	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	544					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGAAGGACGAACGTTCCA	0.473		NA											14	36					0	0	0	0
RET	5979	broad.mit.edu	37	10	43612115	43612115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:43612115G>T	uc001jal.2	+	12	2410	c.2220G>T	c.(2218-2220)AAG>AAT	p.K740N	RET_uc001jak.1_Missense_Mutation_p.K740N|RET_uc010qez.1_Missense_Mutation_p.K486N	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	740	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAGTGGTCAAGGCAACGGCCT	0.532		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				34	143					6.06e-23	7.11e-23	1	0
DDX21	9188	broad.mit.edu	37	10	70728861	70728861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:70728861C>T	uc001jov.1	+	7	1310	c.1220C>T	c.(1219-1221)ACG>ATG	p.T407M	DDX21_uc001jow.1_Missense_Mutation_p.T339M	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	407						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						ACTCAGAAAACGGCAATAACT	0.328		NA											9	44					0	0	0	0
PDCD4	27250	broad.mit.edu	37	10	112641196	112641196	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:112641196C>T	uc001kzh.2	+	3	492	c.249C>T	c.(247-249)GAC>GAT	p.D83D	PDCD4_uc001kzg.2_Silent_p.D72D|PDCD4_uc010qre.1_Silent_p.D69D	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	83					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502		NA											12	66					0	0	0	0
SPON1	10418	broad.mit.edu	37	11	14277228	14277228	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:14277228C>A	uc001mle.2	+	10	1666	c.1128C>A	c.(1126-1128)ATC>ATA	p.I376I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	376	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AGGAGAAAATCCGGCCCCTGA	0.488		NA											16	121					2.23e-06	2.44e-06	1	0
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:48266856C>T	uc001ngs.1	+	1	201	c.201C>T	c.(199-201)TCC>TCT	p.S67S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCTACTCCTCCGCTACAGCCC	0.502		NA											20	117					0	0	0	0
PLCB3	5331	broad.mit.edu	37	11	64032844	64032844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:64032844C>T	uc001nzb.2	+	25	2905	c.2905C>T	c.(2905-2907)CGG>TGG	p.R969W	PLCB3_uc009ypg.1_Missense_Mutation_p.R969W|PLCB3_uc009yph.1_Missense_Mutation_p.R902W|PLCB3_uc009ypi.2_Missense_Mutation_p.R969W	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	969					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCTCCGGAGCCGGCAAGAGCG	0.692		NA											7	25					0	0	0	0
LTBP3	4054	broad.mit.edu	37	11	65314018	65314018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:65314018C>A	uc001oej.2	-	16	2517	c.2248G>T	c.(2248-2250)GAG>TAG	p.E750*	LTBP3_uc001oef.2_5'Flank|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Nonsense_Mutation_p.E180*|LTBP3_uc010roi.1_Nonsense_Mutation_p.E633*|LTBP3_uc001oei.2_Nonsense_Mutation_p.E750*|LTBP3_uc010roj.1_Nonsense_Mutation_p.E451*|LTBP3_uc010rok.1_Nonsense_Mutation_p.E661*	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	750	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GGGCTGCCCTCGGCGCACTCG	0.726		NA											5	25					0.00116845	0.0012157	1	0
OR10G4	390264	broad.mit.edu	37	11	123887153	123887153	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:123887153A>G	uc010sac.1	+	1	872	c.872A>G	c.(871-873)AAC>AGC	p.N291S		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCCTGAGAAACAAGGAGGTG	0.433		NA											22	70					0	0	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794745	124794745	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:124794745A>G	uc001qbk.2	-	2	712	c.306T>C	c.(304-306)TTT>TTC	p.F102F	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.F102F	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	102	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGCCATTTTCAAAGAGTCGGA	0.592		NA											27	118					0	0	0	0
PEX5	5830	broad.mit.edu	37	12	7343015	7343015	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:7343015C>T	uc009zfu.1	+	3	622	c.42C>T	c.(40-42)GCC>GCT	p.A14A	PEX5_uc001qsw.2_Silent_p.A14A|PEX5_uc010sgc.1_Silent_p.A14A|PEX5_uc001qsu.2_Silent_p.A14A|PEX5_uc010sgd.1_Silent_p.A35A|PEX5_uc001qsv.2_Silent_p.A14A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	14					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						GCGGGGGTGCCAACCCGCTCA	0.667		NA											18	63					0	0	0	0
OLR1	4973	broad.mit.edu	37	12	10319441	10319441	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:10319441T>A	uc001qxo.1	-	3	408	c.294A>T	c.(292-294)TCA>TCT	p.S98S	OLR1_uc010sgz.1_5'UTR|OLR1_uc010sha.1_Silent_p.S98S	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	98	Extracellular (Potential).|Neck.|Potential.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						GTTCGTTTTCTGACTCCTGTG	0.453		NA											10	147					0	0	0	0
MIP	4284	broad.mit.edu	37	12	56848316	56848316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:56848316G>T	uc001slh.2	-	1	114	c.82C>A	c.(82-84)CTG>ATG	p.L28M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	28	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GAGGACCCCAGCCCAAAGAAG	0.587		NA											8	81					5.49e-09	6.19e-09	1	0
INHBC	3626	broad.mit.edu	37	12	57828902	57828902	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:57828902A>C	uc001snv.1	+	1	360	c.233A>C	c.(232-234)CAC>CCC	p.H78P		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	78					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						GCACTGCAGCACCTCCACGGG	0.567		NA											8	47					0	0	0	0
TBK1	29110	broad.mit.edu	37	12	64891448	64891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:64891448G>C	uc001ssc.1	+	19	2042	c.1980G>C	c.(1978-1980)CAG>CAC	p.Q660H		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	660	Potential.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CTCTGCCTCAGAAAATGTTTA	0.328		NA											13	73					0	0	0	0
YEATS4	8089	broad.mit.edu	37	12	69756669	69756669	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:69756669G>C	uc001sux.2	+	2	374	c.153G>C	c.(151-153)GTG>GTC	p.V51V		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	51	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CAGTATATGTGAAACCATATA	0.343		NA											11	117					0	0	0	0
PWP1	11137	broad.mit.edu	37	12	108086644	108086644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:108086644G>C	uc001tmo.1	+	4	460	c.373G>C	c.(373-375)GAT>CAT	p.D125H	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.D125H	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	125					transcription, DNA-dependent	nucleus					0						CGGGAGTAATGATCAAGATCC	0.348		NA											13	46					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110232203	110232203	+	Silent	SNP	G	G	A	rs140533102		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:110232203G>A	uc001tpj.1	-	7	1517	c.1422C>T	c.(1420-1422)AAC>AAT	p.N474N	TRPV4_uc001tpg.1_Silent_p.N440N|TRPV4_uc001tph.1_Silent_p.N427N|TRPV4_uc001tpi.1_Silent_p.N367N|TRPV4_uc001tpk.1_Silent_p.N474N|TRPV4_uc001tpl.1_Silent_p.N414N	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	474	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGGAGACCACGTTGATGTAGA	0.622		NA											7	132					0	0	0	0
COG3	83548	broad.mit.edu	37	13	46067614	46067614	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr13:46067614G>C	uc001vak.2	+	12	1421	c.1320G>C	c.(1318-1320)CAG>CAC	p.Q440H	COG3_uc001vai.2_Missense_Mutation_p.Q440H|COG3_uc001vaj.1_Missense_Mutation_p.Q440H|COG3_uc010tfv.1_Missense_Mutation_p.Q277H|COG3_uc010aci.2_Missense_Mutation_p.Q216H	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	440					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATCATGTGCAGAACAATGGTA	0.353		NA											9	86					0	0	0	0
OR4K2	390431	broad.mit.edu	37	14	20345320	20345320	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20345320G>T	uc001vwh.1	+	1	894	c.894G>T	c.(892-894)ATG>ATT	p.M298I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAGCCATGAGGAAACTGA	0.343		NA											12	82					4.38e-07	4.85e-07	1	0
OR4K13	390433	broad.mit.edu	37	14	20502196	20502196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20502196G>A	uc010tkz.1	-	1	722	c.722C>T	c.(721-723)TCA>TTA	p.S241L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATGTGAGCTGAGAGAGTGGA	0.458		NA											16	49					0	0	0	0
DAAM1	23002	broad.mit.edu	37	14	59789901	59789901	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:59789901G>T	uc001xdz.1	+	6	857	c.732G>T	c.(730-732)ATG>ATT	p.M244I	DAAM1_uc001xea.1_Missense_Mutation_p.M244I|DAAM1_uc001xeb.1_Missense_Mutation_p.M244I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	244	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGCAGGCCATGCTGCACTACC	0.552		NA											4	22					1.02e-07	1.15e-07	1	0
PTPN21	11099	broad.mit.edu	37	14	88936012	88936012	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:88936012G>T	uc001xwv.3	-	17	3397	c.3066C>A	c.(3064-3066)ACC>ACA	p.T1022T	PTPN21_uc010twc.1_Silent_p.T818T	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	1022	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ACCTTCCATAGGTGACAGTGT	0.517		NA											10	62					0.000978159	0.00102526	1	0
KIAA1409	57578	broad.mit.edu	37	14	94007049	94007049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:94007049G>A	uc001ybv.1	+	10	948	c.865G>A	c.(865-867)GAG>AAG	p.E289K	KIAA1409_uc001ybs.1_Missense_Mutation_p.E289K|KIAA1409_uc001ybu.1_Missense_Mutation_p.E227K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	466						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GCGAGAACATGAGCTGAACCG	0.483		NA											11	80					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030432	95030432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:95030432G>A	uc001ydk.2	+	2	679	c.613G>A	c.(613-615)GTC>ATC	p.V205I	SERPINA4_uc010avd.2_Missense_Mutation_p.V242I|SERPINA4_uc001ydl.2_Missense_Mutation_p.V205I	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	205					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		CAAGAAGGACGTCTTGATGGT	0.458		NA											11	205					0	0	0	0
FRMD5	84978	broad.mit.edu	37	15	44202113	44202113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:44202113C>T	uc001ztl.2	-	5	571	c.394G>A	c.(394-396)GAT>AAT	p.D132N	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.D43N|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	132	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGCAGCATCCGATGTTTTA	0.388		NA									OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	59					0	0	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961080	56961080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:56961080G>A	uc002adu.2	-	14	1703	c.1486C>T	c.(1486-1488)CAA>TAA	p.Q496*	ZNF280D_uc002adv.2_Nonsense_Mutation_p.Q483*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.Q496*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.Q524*|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313		NA											18	74					0	0	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449139	91449139	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:91449139G>T	uc010bnz.2	+	5	715	c.600G>T	c.(598-600)GTG>GTT	p.V200V	MAN2A2_uc010boa.2_Silent_p.V242V|MAN2A2_uc002bqc.2_Silent_p.V200V|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	200	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATAGCATGGTGTCTAAGCTGC	0.562		NA											4	11					0.00024832	0.00026419	1	0
CASKIN1	57524	broad.mit.edu	37	16	2236796	2236796	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2236796C>A	uc010bsg.1	-	10	992	c.960G>T	c.(958-960)TGG>TGT	p.W320C		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	320	SH3.				signal transduction	cytoplasm				skin(2)	2						TGCAGCCCTTCCACCGGCCAT	0.662		NA											9	66					0.000673444	0.000708493	1	0
PRSS22	64063	broad.mit.edu	37	16	2903246	2903246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2903246C>T	uc002cry.1	-	6	868	c.802G>A	c.(802-804)GAG>AAG	p.E268K	PRSS22_uc002crz.1_Missense_Mutation_p.E158K	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	268	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						CTGTTGCGCTCGGCACAGCCC	0.721		NA											11	39					0	0	0	0
KCTD13	253980	broad.mit.edu	37	16	29937220	29937220	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:29937220C>T	uc002duv.2	-	1	326	c.135G>A	c.(133-135)CTG>CTA	p.L45L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	45	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						CGCCCACGTTCAGCTTCACGT	0.672		NA											6	39					0	0	0	0
ACD	65057	broad.mit.edu	37	16	67691743	67691743	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:67691743C>A	uc002etq.3	-	11	1815	c.1478G>T	c.(1477-1479)AGG>ATG	p.R493M	ACD_uc002etp.3_Missense_Mutation_p.R490M|ACD_uc002etr.3_Intron	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	493					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ATCACGATGCCTCTTTGGGGG	0.587		NA											27	66					2.71e-09	3.09e-09	1	0
AP1G1	164	broad.mit.edu	37	16	71783838	71783838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:71783838G>A	uc010cgg.2	-	15	1770	c.1456C>T	c.(1456-1458)CTT>TTT	p.L486F	AP1G1_uc002fba.2_Missense_Mutation_p.L489F|AP1G1_uc002fbb.2_Missense_Mutation_p.L509F|AP1G1_uc002faz.2_5'Flank	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	486					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GATACAAGAAGATCACCATAT	0.408		NA											40	225					0	0	0	0
DEF8	54849	broad.mit.edu	37	16	90030604	90030604	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:90030604G>C	uc002fpn.1	+	11	1301	c.1212G>C	c.(1210-1212)GAG>GAC	p.E404D	DEF8_uc002fpo.1_Missense_Mutation_p.E343D|DEF8_uc002fpp.1_Missense_Mutation_p.E333D|DEF8_uc010vpq.1_Missense_Mutation_p.E283D|DEF8_uc010vpr.1_Intron|DEF8_uc002fpq.1_Missense_Mutation_p.E101D	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	404					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ATTTTGTGGAGAACGACGAGA	0.657		NA											9	61					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:7577106G>A	uc002gim.2	-	8	1026	c.832C>T	c.(832-834)CCT>TCT	p.P278S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (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.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(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)		TCTCTCCCAGGACAGGCACAA	0.552		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)			5	30					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18066632	18066632	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:18066632C>T	uc010vxh.1	+	58	10025	c.9687C>T	c.(9685-9687)TGC>TGT	p.C3229C	MYO15A_uc010vxi.1_Silent_p.C493C|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Silent_p.C218C|MYO15A_uc002gsl.2_Silent_p.C236C|MYO15A_uc010vxm.1_Silent_p.C151C|MYO15A_uc002gsm.1_Silent_p.C151C|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3229	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TCAAAACATGCACTGTAAGTG	0.552		NA											12	94					0	0	0	0
SSH2	85464	broad.mit.edu	37	17	27999102	27999102	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:27999102C>T	uc002heo.1	-	8	579	c.579G>A	c.(577-579)GCG>GCA	p.A193A	SSH2_uc010wbh.1_Silent_p.A220A|SSH2_uc002hep.1_Silent_p.A193A	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						AGTAGTTATGCGCTCTGGCGA	0.473		NA											12	71					0	0	0	0
ATAD5	79915	broad.mit.edu	37	17	29220393	29220393	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:29220393T>C	uc002hfs.1	+	21	4868	c.4522T>C	c.(4522-4524)TAT>CAT	p.Y1508H		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1508					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTTTTATATAGTAATCT	0.353		NA											25	114					0	0	0	0
TADA2A	6871	broad.mit.edu	37	17	35802715	35802715	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:35802715A>G	uc002hnt.2	+	7	650	c.493A>G	c.(493-495)ATG>GTG	p.M165V	TADA2A_uc002hnu.1_Missense_Mutation_p.M165V|TADA2A_uc002hnv.2_Missense_Mutation_p.M165V|TADA2A_uc010wdd.1_Missense_Mutation_p.M165V|TADA2A_uc002hnw.2_Missense_Mutation_p.M64V|TADA2A_uc010cvb.2_Intron	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	165					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TTCTCGGGACATGGCCGGGTA	0.418		NA											5	56					0	0	0	0
MFSD11	79157	broad.mit.edu	37	17	74734467	74734467	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:74734467C>T	uc002jta.2	+	2	1006	c.33C>T	c.(31-33)ATC>ATT	p.I11I	SFRS2_uc002jsv.2_5'Flank|SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_5'Flank|SFRS2_uc002jsy.3_5'Flank|SFRS2_uc010wtg.1_5'Flank|MFSD11_uc002jsz.1_RNA|MIR636_hsa-mir-636|MI0003651_5'Flank|MFSD11_uc002jtb.2_Silent_p.I11I|MFSD11_uc010dha.2_Silent_p.I11I|MFSD11_uc002jtc.2_Silent_p.I11I|MFSD11_uc002jtd.3_Silent_p.I11I|MFSD11_uc010dhb.2_Silent_p.I11I|MFSD11_uc002jte.2_Silent_p.I11I	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	11	Helical; (Potential).					integral to membrane				ovary(1)	1						TTTTCAACATCATTATTTTAG	0.502		NA											4	37					0	0	0	0
KIAA0802	23255	broad.mit.edu	37	18	8720391	8720391	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr18:8720391A>T	uc002knr.2	+	4	396	c.254A>T	c.(253-255)AAG>ATG	p.K85M	KIAA0802_uc002knq.2_Missense_Mutation_p.K85M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	436	Potential.										0						GTGGAGGAAAAGCGCGCTAAA	0.463		NA											9	70					0	0	0	0
BEST2	54831	broad.mit.edu	37	19	12866735	12866735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:12866735G>A	uc002mux.2	+	7	934	c.934G>A	c.(934-936)GAT>AAT	p.D312N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	312	Cytoplasmic (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTTTCTGATCGATAGAAACTT	0.542		NA											5	56					0	0	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941241	13941241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:13941241T>G	uc002mxh.1	+	13	2536	c.2347T>G	c.(2347-2349)TCG>GCG	p.S783A	ZSWIM4_uc010xng.1_Missense_Mutation_p.S706A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	783							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAAGAACCACTCGGCCTTCGA	0.697		NA											13	136					0	0	0	0
UBA52	7311	broad.mit.edu	37	19	18684147	18684147	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:18684147A>G	uc002njr.2	+	2	151	c.37A>G	c.(37-39)ATC>GTC	p.I13V	UBA52_uc002njs.2_Missense_Mutation_p.I13V|UBA52_uc002njt.2_Missense_Mutation_p.I13V	NM_001033930	NP_001029102	P62987	RL40_HUMAN	ubiquitin and ribosomal protein L40 precursor	13	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0						TGGCAAAACCATCACCCTTGA	0.537		NA											5	37					0	0	0	0
CCNE1	898	broad.mit.edu	37	19	30312987	30312987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:30312987G>T	uc002nsn.2	+	9	973	c.790G>T	c.(790-792)GAA>TAA	p.E264*	CCNE1_uc002nso.2_Nonsense_Mutation_p.E249*|CCNE1_uc002nsp.2_Nonsense_Mutation_p.E11*	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	264					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGACTTACATGAAGTGCTACT	0.488		NA											8	114					5.18e-06	5.64e-06	1	0
CCDC8	83987	broad.mit.edu	37	19	46914545	46914545	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46914545C>G	uc002pep.2	-	1	2375	c.1523G>C	c.(1522-1524)AGA>ACA	p.R508T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	508						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTGGGGACTCTCTTGGGCAG	0.622		NA											10	89					0	0	0	0
CCDC8	83987	broad.mit.edu	37	19	46915167	46915167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46915167C>T	uc002pep.2	-	1	1753	c.901G>A	c.(901-903)GAT>AAT	p.D301N		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	301						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTTGACTATCTGCAGCCTCT	0.627		NA											15	223					0	0	0	0
ID2	3398	broad.mit.edu	37	2	8822625	8822625	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:8822625C>T	uc010yiu.1	+	3	825	c.330C>T	c.(328-330)ATC>ATT	p.I110I	ID2_uc002qza.2_Silent_p.I110I	NM_002166	NP_002157	Q02363	ID2_HUMAN	inhibitor of DNA binding 2	110	Nuclear export signal (By similarity).				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACGGATATCAGCATCCTGT	0.652		NA											7	53					0	0	0	0
ROCK2	9475	broad.mit.edu	37	2	11341183	11341183	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:11341183G>C	uc002rbd.1	-	23	3259	c.2810C>G	c.(2809-2811)TCT>TGT	p.S937C		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	937	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTCCAAATCAGAATATTGTTC	0.413		NA											13	155					0	0	0	0
CLIP4	79745	broad.mit.edu	37	2	29356553	29356553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:29356553C>G	uc002rmv.2	+	5	639	c.400C>G	c.(400-402)CAG>GAG	p.Q134E	CLIP4_uc002rmu.2_Missense_Mutation_p.Q134E|CLIP4_uc010ezm.1_Missense_Mutation_p.Q134E|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.Q116E	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	134										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATTTGCAACTCAGCTTATTGA	0.368		NA											11	46					0	0	0	0
RTN4	57142	broad.mit.edu	37	2	55252633	55252633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:55252633T>C	uc002rye.2	-	3	2900	c.2602A>G	c.(2602-2604)ATA>GTA	p.I868V	RTN4_uc002ryd.2_Missense_Mutation_p.I662V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	868	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						AACTCATCTATAATTTCAATT	0.333		NA											8	72					0	0	0	0
ERCC3	2071	broad.mit.edu	37	2	128044304	128044304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:128044304G>C	uc002toh.1	-	8	1412	c.1317C>G	c.(1315-1317)ATC>ATG	p.I439M	ERCC3_uc002toe.1_Missense_Mutation_p.I194M|ERCC3_uc002tof.1_Missense_Mutation_p.I375M|ERCC3_uc002tog.1_Missense_Mutation_p.I375M|ERCC3_uc010flx.1_Missense_Mutation_p.I194M	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	439	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCATCCAGGATCATGAGGC	0.552		NA	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				6	97					0	0	0	0
STAM2	10254	broad.mit.edu	37	2	152989924	152989924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:152989924T>C	uc002tyc.3	-	9	1224	c.874A>G	c.(874-876)ATA>GTA	p.I292V	STAM2_uc010foa.1_Missense_Mutation_p.I292V|STAM2_uc002tyd.2_Missense_Mutation_p.I292V	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	292					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCTCATCTATATAAACAGGC	0.318		NA											21	116					0	0	0	0
PKP4	8502	broad.mit.edu	37	2	159433849	159433849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:159433849G>C	uc002tzv.2	+	3	459	c.199G>C	c.(199-201)GAA>CAA	p.E67Q	PKP4_uc002tzt.1_Intron|PKP4_uc002tzu.2_Missense_Mutation_p.E67Q|PKP4_uc002tzw.2_Missense_Mutation_p.E67Q|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.E67Q|PKP4_uc002uaa.2_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	67	Potential.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CAGTCAGCTAGAAAGATGTAG	0.478		NA								HNSCC(62;0.18)			5	34					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098965	178098965	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:178098965T>C	uc002ulh.3	-	2	635	c.80A>G	c.(79-81)GAT>GGT	p.D27G	NFE2L2_uc002ulg.3_Missense_Mutation_p.D11G|NFE2L2_uc010zfa.1_Missense_Mutation_p.D11G|NFE2L2_uc002uli.3_Missense_Mutation_p.D11G|NFE2L2_uc010fra.2_Missense_Mutation_p.D11G|NFE2L2_uc010frb.2_Missense_Mutation_p.D11G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	27					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGATCTATATCTTGCCTCCA	0.353		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			5	32					0	0	0	0
SATB2	23314	broad.mit.edu	37	2	200245204	200245204	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:200245204T>A	uc002uuy.1	-	5	1297	c.480A>T	c.(478-480)TCA>TCT	p.S160S	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Silent_p.S160S|SATB2_uc002uva.1_Silent_p.S160S	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTCCAACTTTGAACAACTGC	0.483		NA											7	56					0	0	0	0
SOX12	6666	broad.mit.edu	37	20	307440	307440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:307440G>A	uc002wdh.2	+	1	1202	c.872G>A	c.(871-873)TGC>TAC	p.C291Y		NM_006943	NP_008874	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	291					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding				0		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCGGACTACTGCACCCCCGAG	0.701		NA											4	30					0	0	0	0
SIRPB1	10326	broad.mit.edu	37	20	1558986	1558986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:1558986C>T	uc010gai.2	-	2	530	c.431G>A	c.(430-432)CGC>CAC	p.R144H	SIRPB1_uc002wfk.3_Missense_Mutation_p.R144H	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	144	Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						GTACTCACCGCGCACAGACAG	0.552		NA											30	97					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10622312	10622312	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:10622312G>A	uc002wnw.2	-	23	3228	c.2712C>T	c.(2710-2712)CTC>CTT	p.L904L	JAG1_uc010gcd.1_Silent_p.L462L	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	904	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCCCTTTGTGGAGCAGGCAAG	0.612		NA							Alagille_Syndrome				9	32					0	0	0	0
ASXL1	171023	broad.mit.edu	37	20	31023178	31023178	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:31023178A>G	uc002wxs.2	+	12	3089	c.2663A>G	c.(2662-2664)AAG>AGG	p.K888R	ASXL1_uc010geb.2_Missense_Mutation_p.K779R	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	888					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.K888fs*6(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TTGAAAACCAAGGCTCTCGTT	0.448		NA	F|N|Mis		MDS|CMML								26	118					0	0	0	0
NTSR1	4923	broad.mit.edu	37	20	61391421	61391421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:61391421C>G	uc002ydf.2	+	4	1430	c.1059C>G	c.(1057-1059)TTC>TTG	p.F353L		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	353	Helical; Name=7; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCACTCTTCTACGTCAGCT	0.577		NA											11	219					0	0	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971047	31971047	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr21:31971047G>C	uc011adc.1	-	1	147	c.147C>G	c.(145-147)TTC>TTG	p.F49L	KRTAP22-1_uc011add.1_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	49						intermediate filament					0						CACAGCCACAGAAGAAGCGGG	0.552		NA											4	46					0	0	0	0
CECR2	27443	broad.mit.edu	37	22	18022154	18022154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:18022154G>A	uc010gqw.1	+	15	2382	c.2256G>A	c.(2254-2256)TGG>TGA	p.W752*	CECR2_uc010gqv.1_Nonsense_Mutation_p.W611*|CECR2_uc002zml.2_Nonsense_Mutation_p.W611*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	794					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTGCCGTCTGGAATGGGAACC	0.577		NA											4	34					0	0	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219248	24219248	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:24219248G>A	uc002zyn.3	+	5	525	c.426G>A	c.(424-426)CAG>CAA	p.Q142Q	SLC2A11_uc002zyl.1_Silent_p.Q149Q|SLC2A11_uc002zym.3_Silent_p.Q149Q|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.Q149Q|SLC2A11_uc011ajd.1_Silent_p.Q136Q|SLC2A11_uc002zyp.3_Silent_p.Q145Q	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	142	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1						TGAACATCCAGCCCATGTACC	0.642		NA											12	56					0	0	0	0
EMID1	129080	broad.mit.edu	37	22	29627077	29627077	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29627077G>T	uc003aen.2	+	6	603	c.528G>T	c.(526-528)CCG>CCT	p.P176P	EMID1_uc003aem.2_Silent_p.P178P|EMID1_uc003aeo.2_Silent_p.P178P|EMID1_uc003aep.2_Silent_p.P178P	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	176						collagen					0						ACCCTGCCCCGCTCTGGGGTC	0.582		NA											13	84					2.62e-11	3.05e-11	1	0
THOC5	8563	broad.mit.edu	37	22	29913096	29913096	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29913096A>G	uc003afr.2	-	18	1938	c.1603T>C	c.(1603-1605)TTC>CTC	p.F535L	THOC5_uc003afq.2_Missense_Mutation_p.F196L|THOC5_uc003afs.2_Missense_Mutation_p.F535L|THOC5_uc003aft.2_Missense_Mutation_p.F535L|THOC5_uc003afu.2_Missense_Mutation_p.F535L|THOC5_uc010gvo.2_Missense_Mutation_p.F279L	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	535					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						TCTTTGGTGAAGTGCAGCTCC	0.537		NA											14	113					0	0	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660938	35660938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:35660938A>G	uc003anl.2	+	5	731	c.557A>G	c.(556-558)GAG>GGG	p.E186G	HMGXB4_uc011amh.1_Missense_Mutation_p.E77G|HMGXB4_uc003ank.2_Missense_Mutation_p.E77G	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	186					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						ACCCTTCGGGAGCCTGATGGT	0.463		NA											24	149					0	0	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824021	38824021	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:38824021C>T	uc003avs.1	-	2	214	c.117G>A	c.(115-117)TCG>TCA	p.S39S	KCNJ4_uc003avt.1_Silent_p.S39S	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	39	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTAGCGCTGCGACTTGTTGC	0.612		NA											56	235					0	0	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349184	38349184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:38349184G>A	uc010hhc.1	+	4	790	c.748G>A	c.(748-750)GGC>AGC	p.G250S	SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc003cib.2_Missense_Mutation_p.G250S|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	250	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTCAGTGGTGGGCTACGCCAT	0.577		NA											24	118					0	0	0	0
PFKFB4	5210	broad.mit.edu	37	3	48560992	48560992	+	Silent	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:48560992C>G	uc003ctv.2	-	12	1280	c.1263G>C	c.(1261-1263)CTG>CTC	p.L421L	PFKFB4_uc003ctw.2_Silent_p.L230L|PFKFB4_uc010hkc.2_Silent_p.L386L|PFKFB4_uc003ctx.2_Silent_p.L378L|PFKFB4_uc010hkb.2_Silent_p.L414L|PFKFB4_uc011bbm.1_Silent_p.L410L	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	421	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAGTCAGCTTCAGGACTGTGT	0.522		NA											9	85					0	0	0	0
BOC	91653	broad.mit.edu	37	3	112987215	112987215	+	Missense_Mutation	SNP	C	C	T	rs139434929		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:112987215C>T	uc003dzx.2	+	5	1067	c.446C>T	c.(445-447)GCC>GTC	p.A149V	BOC_uc010hqi.2_Missense_Mutation_p.A149V|BOC_uc003dzy.2_Missense_Mutation_p.A149V|BOC_uc003dzz.2_Missense_Mutation_p.A149V|BOC_uc003eab.2_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	149	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GCAGTCATTGCCTGCCACCTG	0.572		NA											6	25					0	0	0	0
MCM2	4171	broad.mit.edu	37	3	127339922	127339922	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:127339922G>T	uc003ejp.2	+	15	2512	c.2455G>T	c.(2455-2457)GCC>TCC	p.A819S	MCM2_uc011bkm.1_Missense_Mutation_p.A689S|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A772S	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	819					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GCAGACTTTTGCCCGCTACCT	0.547		NA											14	216					9.17e-09	1.03e-08	1	0
PLSCR4	57088	broad.mit.edu	37	3	145913005	145913005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:145913005G>A	uc010huy.2	-	8	1180	c.851C>T	c.(850-852)TCA>TTA	p.S284L	PLSCR4_uc010huz.2_Missense_Mutation_p.S284L|PLSCR4_uc003evt.3_Missense_Mutation_p.S284L|PLSCR4_uc010hva.2_Missense_Mutation_p.S194L|PLSCR4_uc003evu.3_Missense_Mutation_p.S179L	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	284	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						TGCCATTGCTGATAACAAACC	0.423		NA											15	96					0	0	0	0
SSR3	6747	broad.mit.edu	37	3	156272786	156272786	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:156272786G>C	uc003fau.2	-	1	150	c.93C>G	c.(91-93)CTC>CTG	p.L31L	SSR3_uc011bop.1_Silent_p.L31L	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	signal sequence receptor gamma subunit	31	Helical; (Potential).				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding				0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCGAAGAAGAGCGCGGAGG	0.637		NA											7	41					0	0	0	0
SI	6476	broad.mit.edu	37	3	164716372	164716372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:164716372C>T	uc003fei.2	-	38	4558	c.4496G>A	c.(4495-4497)GGA>GAA	p.G1499E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1499	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATAGTTGTCTCCAAGCCAGTG	0.388		NA								HNSCC(35;0.089)			8	139					0	0	0	0
GABRA4	2557	broad.mit.edu	37	4	46979498	46979498	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:46979498G>C	uc003gxg.2	-	4	562	c.423C>G	c.(421-423)GTC>GTG	p.V141V		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	141	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTATGTGAGACAGATTTCT	0.299		NA											7	39					0	0	0	0
DCK	1633	broad.mit.edu	37	4	71892453	71892453	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:71892453A>T	uc003hfx.2	+	6	1025	c.737A>T	c.(736-738)TAT>TTT	p.Y246F	DCK_uc011cbb.1_Missense_Mutation_p.Y174F	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	246					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAAGACAAATATGAAAGTCTG	0.294		NA											11	58					0	0	0	0
AFM	173	broad.mit.edu	37	4	74350051	74350051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:74350051G>C	uc003hhb.2	+	3	245	c.214G>C	c.(214-216)GAA>CAA	p.E72Q		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	72	Albumin 1.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGACATGGTAGAATACAAAGA	0.383		NA											12	97					0	0	0	0
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:75673268C>T	uc003hig.2	-	5	867	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	174	Cytoplasmic (Potential).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338		NA											10	65					0	0	0	0
CNOT6L	246175	broad.mit.edu	37	4	78697453	78697453	+	Silent	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:78697453T>C	uc011ccd.1	-	2	230	c.99A>G	c.(97-99)AAA>AAG	p.K33K	CNOT6L_uc003hks.2_Silent_p.K33K|CNOT6L_uc011cce.1_Silent_p.K33K	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						CCCAGTGAGATTTTTTCCCAT	0.373		NA											17	118					0	0	0	0
HELQ	113510	broad.mit.edu	37	4	84350691	84350691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:84350691C>T	uc003hom.2	-	12	2683	c.2504G>A	c.(2503-2505)CGT>CAT	p.R835H	HELQ_uc010ikb.2_Missense_Mutation_p.R768H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	835							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AAATGAAGCACGTCCCAACTT	0.279		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					9	51					0	0	0	0
NPY1R	4886	broad.mit.edu	37	4	164246608	164246608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:164246608G>C	uc003iqm.1	-	3	1268	c.1002C>G	c.(1000-1002)TTC>TTG	p.F334L	NPY1R_uc011cjj.1_Missense_Mutation_p.F91L	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	334	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAAGTTGAAGAAGAACTGCA	0.418		NA											25	99					0	0	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212490	1212490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1212490C>T	uc003jbw.3	+	4	610	c.554C>T	c.(553-555)ACG>ATG	p.T185M		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	185	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCTCCACGTCCATCAGC	0.617		NA											20	123					0	0	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432607	1432607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1432607C>A	uc003jck.2	-	4	746	c.625G>T	c.(625-627)GGG>TGG	p.G209W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	209	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGTGTGGTCCCAAAAGTGTCG	0.612		NA											7	48					0.000274275	0.000290711	1	0
RICTOR	253260	broad.mit.edu	37	5	38957791	38957791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:38957791C>T	uc003jlp.2	-	25	2486	c.2462G>A	c.(2461-2463)AGA>AAA	p.R821K	RICTOR_uc003jlo.2_Missense_Mutation_p.R821K|RICTOR_uc010ivf.2_Missense_Mutation_p.R536K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	821					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TACATAACCTCTTTCATTCAG	0.308		NA											10	82					0	0	0	0
TTC33	23548	broad.mit.edu	37	5	40716521	40716521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40716521C>T	uc003jma.2	-	5	663	c.515G>A	c.(514-516)AGA>AAA	p.R172K	TTC33_uc011cpm.1_Missense_Mutation_p.R64K|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	172							binding			ovary(1)	1						CTGGAGCGTTCTTGCCCAAGA	0.423		NA											21	163					0	0	0	0
CARD6	84674	broad.mit.edu	37	5	40854219	40854219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40854219C>A	uc003jmg.2	+	3	2860	c.2785C>A	c.(2785-2787)CTC>ATC	p.L929I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	929					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						AAATCCAGCTCTCCAAATAGG	0.507		NA											26	154					4.78e-09	5.41e-09	1	0
RGS7BP	401190	broad.mit.edu	37	5	63871704	63871704	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:63871704C>T	uc003jtj.2	+	3	436	c.436C>T	c.(436-438)CTG>TTG	p.L146L	RGS7BP_uc011cqu.1_Silent_p.L13L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	146					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418		NA											5	89					0	0	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552561	140552562	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552561_140552562GC>CT	uc003lit.2	+	1	319_320	c.145_146GC>CT	c.(145-147)GCA>CTA	p.A49L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	49	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAACTTGGCAAAAGACCTA	0.49		NA											11	96					0	0	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764402	140764402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140764402G>A	uc003lka.1	+	1	1936	c.1936G>A	c.(1936-1938)GTC>ATC	p.V646I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.V646I	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	646	Extracellular (Potential).|Cadherin 6.				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)			CGTGGTGGCCGTCCAGGACCA	0.662		NA											13	29					0	0	0	0
NR3C1	2908	broad.mit.edu	37	5	142779482	142779482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:142779482C>G	uc003lmz.2	-	2	1415	c.923G>C	c.(922-924)GGA>GCA	p.G308A	NR3C1_uc003lmy.2_Missense_Mutation_p.G308A|NR3C1_uc003lna.2_Missense_Mutation_p.G308A|NR3C1_uc003lnb.2_Missense_Mutation_p.G308A|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.G308A|NR3C1_uc003lnd.2_Missense_Mutation_p.G308A|NR3C1_uc003lne.2_Missense_Mutation_p.G308A|NR3C1_uc003lnf.2_Missense_Mutation_p.G308A|NR3C1_uc003lng.2_Missense_Mutation_p.G308A|NR3C1_uc003lnh.2_Missense_Mutation_p.G308A|NR3C1_uc003lni.2_Missense_Mutation_p.G308A	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	308	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATATTTGCTCCAGGAAAGCT	0.418		NA											10	140					0	0	0	0
ADRA1B	147	broad.mit.edu	37	5	159343986	159343986	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:159343986T>G	uc003lxt.1	+	1	247	c.74T>G	c.(73-75)TTC>TGC	p.F25C		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	25	Extracellular (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AATGCCAACTTCACTGGCCCC	0.597		NA											5	89					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7566626	7566626	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7566626T>C	uc003mxp.1	+	8	1235	c.956T>C	c.(955-957)CTG>CCG	p.L319P	DSP_uc003mxq.1_Missense_Mutation_p.L319P	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	319	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGTCAACTGGAAGTTAAA	0.378		NA											8	50					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7581448	7581448	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7581448C>T	uc003mxp.1	+	23	5304	c.5025C>T	c.(5023-5025)GTC>GTT	p.V1675V	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1675	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAAGTGTCAAACAAGCTC	0.493		NA											12	99					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7583519	7583519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7583519C>G	uc003mxp.1	+	24	6303	c.6024C>G	c.(6022-6024)ATC>ATG	p.I2008M	DSP_uc003mxq.1_Missense_Mutation_p.I1409M	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2008	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAAATCCAGCCATTCC	0.453		NA											6	74					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7585993	7585993	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7585993C>A	uc003mxp.1	+	24	8777	c.8498C>A	c.(8497-8499)TCT>TAT	p.S2833Y	DSP_uc003mxq.1_Missense_Mutation_p.S2234Y	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2833	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cgctcgggatctcgctccgga	0.413		NA											12	105					1.62e-10	1.87e-10	1	0
NOTCH4	4855	broad.mit.edu	37	6	32172089	32172089	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:32172089T>A	uc003obb.2	-	19	3082	c.2943A>T	c.(2941-2943)GGA>GGT	p.G981G	NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	981	EGF-like 25.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GAGTACAGGTTCCATGGTTGT	0.562		NA											10	45					0	0	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975736	42975736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:42975736C>T	uc003oth.2	+	7	876	c.790C>T	c.(790-792)CGC>TGC	p.R264C	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R232C|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R158C|PPP2R5D_uc011dva.1_Missense_Mutation_p.R113C|PPP2R5D_uc003oti.2_Missense_Mutation_p.R113C|PPP2R5D_uc003otj.2_Missense_Mutation_p.R113C	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATTTTGCATCGCATCTATGG	0.537		NA											12	147					0	0	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222466	44222466	+	Missense_Mutation	SNP	C	C	G	rs150122797		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:44222466C>G	uc003oxd.2	-	4	1412	c.1276G>C	c.(1276-1278)GAG>CAG	p.E426Q	SLC35B2_uc011dvt.1_Missense_Mutation_p.E329Q|SLC35B2_uc011dvu.1_Missense_Mutation_p.E293Q	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	426					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGACTCAACAGGCACA	0.602		NA											11	143					0	0	0	0
GPR111	222611	broad.mit.edu	37	6	47646751	47646751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:47646751C>T	uc010jzj.1	+	4	353	c.352C>T	c.(352-354)CAG>TAG	p.Q118*	GPR111_uc010jzk.1_Nonsense_Mutation_p.Q50*|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	118	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AGACTACTCCCAGTGTACTCA	0.512		NA											9	77					0	0	0	0
COL9A1	1297	broad.mit.edu	37	6	70993468	70993468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:70993468G>A	uc003pfg.3	-	6	911	c.752C>T	c.(751-753)ACT>ATT	p.T251I	COL9A1_uc003pff.3_5'Flank	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	251	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CTCATGGCAAGTTTCTCTCCT	0.522		NA											3	13					0	0	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378702	114378702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378702C>G	uc003pwg.3	-	2	792	c.760G>C	c.(760-762)GAT>CAT	p.D254H	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.D254H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	254	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGATCTCCATCGACGACATGA	0.418		NA											8	81					0	0	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378831	114378831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378831C>G	uc003pwg.3	-	2	663	c.631G>C	c.(631-633)GAG>CAG	p.E211Q	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E211Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	211	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCCAGCTTCTCAAACTTGTAA	0.413		NA											29	287					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938343	116938343	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:116938343C>G	uc003pxe.2	+	1	702	c.557C>G	c.(556-558)TCA>TGA	p.S186*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.S186*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	186					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GAGGAAGACTCAAACAGTGAC	0.512		NA							Kartagener_syndrome				11	158					0	0	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129939986	129939986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:129939986C>A	uc003qbr.2	-	6	887	c.798G>T	c.(796-798)TTG>TTT	p.L266F	ARHGAP18_uc011ebw.1_Missense_Mutation_p.L266F	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	266					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGTCTTTTGGCAATCTGAAAC	0.403		NA											15	66					2.32e-09	2.66e-09	1	0
EYA4	2070	broad.mit.edu	37	6	133769304	133769304	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:133769304C>T	uc003qec.3	+	5	722	c.264C>T	c.(262-264)CCC>CCT	p.P88P	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Silent_p.P88P|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Silent_p.P88P|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	88					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCAACACCCCCTCTTCTGCAA	0.453		NA											4	58					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21747407	21747407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21747407C>G	uc003svc.2	+	41	6689	c.6658C>G	c.(6658-6660)CTC>GTC	p.L2220V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2220	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACAGATGAACTCTTTGGTTT	0.393		NA							Kartagener_syndrome				6	31					0	0	0	0
FKBP14	55033	broad.mit.edu	37	7	30065984	30065984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30065984C>G	uc003tal.1	-	1	285	c.141G>C	c.(139-141)TTG>TTC	p.L47F	PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	47	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GGACCAACATCAAATCCCCTC	0.428		NA											11	121					0	0	0	0
GGCT	79017	broad.mit.edu	37	7	30538508	30538508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30538508C>G	uc003tba.2	-	3	461	c.334G>C	c.(334-336)GTT>CTT	p.V112L	GGCT_uc003tbb.2_Intron|GGCT_uc003tbc.2_RNA|GGCT_uc003taz.2_Missense_Mutation_p.V51L	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	112					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0						TGAGTTGCAACTTTAACTTCT	0.373		NA											9	110					0	0	0	0
HIP1	3092	broad.mit.edu	37	7	75171237	75171237	+	Splice_Site	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75171237C>T	uc003uds.1	-	29	2993	c.2952_splice	c.e29+1	p.Q984_splice	HIP1_uc011kfz.1_Splice_Site_p.Q810_splice	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GGAGCTCTCACCTGAGAATCC	0.443		NA	T	PDGFRB	CMML								19	80					0	0	0	0
POR	5447	broad.mit.edu	37	7	75612939	75612939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75612939C>T	uc003udy.2	+	9	1014	c.932C>T	c.(931-933)TCG>TTG	p.S311L	POR_uc011kgc.1_Missense_Mutation_p.S119L|POR_uc011kgd.1_Missense_Mutation_p.S210L|POR_uc011kge.1_Missense_Mutation_p.S49L|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	308	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGGACATCTCGGACTCCAAA	0.622		NA											15	100					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91652175	91652175	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:91652175A>T	uc003ulg.2	+	14	4225	c.4000A>T	c.(4000-4002)ACT>TCT	p.T1334S	AKAP9_uc003ule.2_Missense_Mutation_p.T1346S|AKAP9_uc003ulf.2_Missense_Mutation_p.T1334S|AKAP9_uc003uli.2_Missense_Mutation_p.T959S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1346	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTTGAAAAAACTAAACTTGA	0.323		NA	T	BRAF	papillary thyroid								7	39					0	0	0	0
IDO1	3620	broad.mit.edu	37	8	39782292	39782292	+	Splice_Site	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:39782292G>T	uc003xnm.2	+	8	821	c.707_splice	c.e8+1	p.G236_splice	IDO1_uc003xnn.2_Splice_Site	NM_002164	NP_002155	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)	2					L-Tryptophan(DB00150)	ATTTGTCTGGGTATGTAGTCT	0.353		NA											4	15					0.00116845	0.0012157	1	0
VPS13B	157680	broad.mit.edu	37	8	100493856	100493856	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100493856C>A	uc003yiv.2	+	25	3807	c.3696C>A	c.(3694-3696)ATC>ATA	p.I1232I	VPS13B_uc003yiw.2_Silent_p.I1232I|VPS13B_uc003yiu.1_Silent_p.I1232I|VPS13B_uc003yix.1_Silent_p.I702I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1232					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAACTGATATCATGAATAAGG	0.393		NA											28	280					1.31e-18	1.53e-18	1	0
VPS13B	157680	broad.mit.edu	37	8	100796680	100796680	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100796680C>T	uc003yiv.2	+	43	8103	c.7992C>T	c.(7990-7992)AGC>AGT	p.S2664S	VPS13B_uc003yiw.2_Silent_p.S2639S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2664					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCAGTACAGCTGGCGCTCTC	0.473		NA											38	103					0	0	0	0
LRP12	29967	broad.mit.edu	37	8	105503225	105503225	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:105503225C>T	uc003yma.2	-	7	2351	c.2256G>A	c.(2254-2256)CAG>CAA	p.Q752Q	LRP12_uc003ymb.2_Silent_p.Q733Q|LRP12_uc003ylz.2_Silent_p.Q158Q	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	752	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACTCTGGTTCTGACTTAGGG	0.443		NA											13	110					0	0	0	0
ADCY8	114	broad.mit.edu	37	8	132002670	132002670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:132002670C>T	uc003ytd.3	-	2	1335	c.1079G>A	c.(1078-1080)AGG>AAG	p.R360K	ADCY8_uc010mds.2_Missense_Mutation_p.R360K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	360	Cytoplasmic (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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGGCGCAGCCTGGCCTCCAC	0.502		NA								HNSCC(32;0.087)			27	163					0	0	0	0
KIAA1797	54914	broad.mit.edu	37	9	20885141	20885141	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:20885141A>G	uc003zog.1	+	23	2900	c.2537A>G	c.(2536-2538)TAT>TGT	p.Y846C	KIAA1797_uc003zoh.1_Missense_Mutation_p.Y282C	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	846						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTTTCCATGTATCAGAGTAAA	0.303		NA											16	46					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:139412326C>A	uc004chz.2	-	8	1319	c.1319G>T	c.(1318-1320)TGT>TTT	p.C440F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	440	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)		GCCCTGCAGACACTGGCACTC	0.657		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			23	53					2.89e-11	3.35e-11	1	0
MXRA5	25878	broad.mit.edu	37	X	3239737	3239737	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:3239737A>G	uc004crg.3	-	5	4146	c.3989T>C	c.(3988-3990)GTT>GCT	p.V1330A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1330						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTGTGGCAACATCATCCTT	0.378		NA											27	60					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	40990715	40990715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:40990715G>T	uc004dfb.2	+	4	881	c.248G>T	c.(247-249)CGA>CTA	p.R83L	USP9X_uc004dfc.2_Missense_Mutation_p.R83L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	83					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TTTAGGCCTCGATGGGTGGTT	0.343		NA											10	44					1.59e-06	1.74e-06	1	0
IL25	64806	broad.mit.edu	37	14	23842343	23842350	+	Frame_Shift_Del	DEL	AGATTAGG	AGATTAGG	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:23842343_23842350delAGATTAGG	uc001wjr.2	+	1	326_333	c.16_23delAGATTAGG	c.(16-24)AGATTAGGTfs	p.R6fs	IL25_uc001wjq.2_Intron	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	6_8					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GGAGCGACCCAGATTAGGTGAGGACAGT	0.596		NA											11	125	---	---	---	---	NA	NA	NA	NA
MSH6	2956	broad.mit.edu	37	2	48026701	48026714	+	Frame_Shift_Del	DEL	CTGGAAGGTGATCC	CTGGAAGGTGATCC	-	rs63751090		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:48026701_48026714delCTGGAAGGTGATCC	uc002rwd.3	+	4	1731_1744	c.1579_1592delCTGGAAGGTGATCC	c.(1579-1593)CTGGAAGGTGATCCCfs	p.L527fs	MSH6_uc002rwc.2_Frame_Shift_Del_p.L527fs|MSH6_uc010fbj.2_Frame_Shift_Del_p.L225fs|MSH6_uc010yoi.1_Frame_Shift_Del_p.L397fs|MSH6_uc010yoj.1_Frame_Shift_Del_p.L225fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	527_531					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACAGTGTGCTGGAAGGTGATCCCTCTGAGAAC	0.435		NA	Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				8	88	---	---	---	---	NA	NA	NA	NA
FAM131A	131408	broad.mit.edu	37	3	184062544	184062547	+	Frame_Shift_Del	DEL	TGGG	TGGG	-	rs145523198	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:184062544_184062547delTGGG	uc003fog.2	+	3	2158_2161	c.794_797delTGGG	c.(793-798)CTGGGCfs	p.L265fs	FAM131A_uc003fob.1_Frame_Shift_Del_p.L173fs|FAM131A_uc003foc.2_Frame_Shift_Del_p.L211fs|FAM131A_uc003foe.2_Frame_Shift_Del_p.L211fs	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	265_266						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCGCAGCCTGGGCCCACTGGAG	0.691		NA											8	225	---	---	---	---	NA	NA	NA	NA
PLG	5340	broad.mit.edu	37	6	161139457	161139457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:161139457delC	uc003qtm.3	+	8	982	c.919delC	c.(919-921)CATfs	p.H307fs		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	307	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCTCACACACATAACAGGAC	0.512		NA											21	111	---	---	---	---	NA	NA	NA	NA