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
C1orf159	54991	broad.mit.edu	37	1	1019467	1019467	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1019467C>T	uc001act.2	-	11	1362	c.876G>A	c.(874-876)GAG>GAA	p.E292E	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Splice_Site|C1orf159_uc001acs.2_Splice_Site|C1orf159_uc010nyd.1_Splice_Site|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Silent_p.E256E|C1orf159_uc001acp.2_Intron	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	hypothetical protein LOC54991	292						integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACCCCACGTCTCGGGAACAG	0.647		NA											3	23					0	0	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268701	1268701	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1268701C>G	uc010nyk.1	+	5	1542	c.1542C>G	c.(1540-1542)TTC>TTG	p.F514L		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	514	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCAAGGGGTTCCACTCCTGCT	0.711		NA											4	8					0	0	0	0
PLCH2	9651	broad.mit.edu	37	1	2428128	2428128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:2428128G>A	uc001aji.1	+	14	2192	c.1918G>A	c.(1918-1920)GAC>AAC	p.D640N	PLCH2_uc010nyz.1_Missense_Mutation_p.D428N|PLCH2_uc009vle.1_Missense_Mutation_p.D428N|PLCH2_uc001ajj.1_Missense_Mutation_p.D428N|PLCH2_uc001ajk.1_Missense_Mutation_p.D428N|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	640	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCACCCACGACATAGAGAT	0.682		NA											4	14					0	0	0	0
KIAA0562	9731	broad.mit.edu	37	1	3756183	3756183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:3756183C>G	uc001aky.2	-	7	1083	c.724G>C	c.(724-726)GAT>CAT	p.D242H	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D242H	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	242	Potential.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TTTTGCAAATCAGCAATGGCT	0.348		NA											14	89					0	0	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918895	12918895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:12918895G>C	uc001aum.1	+	2	118	c.31G>C	c.(31-33)GAG>CAG	p.E11Q		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	11											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTACTGGAGCTGGCGGG	0.557		NA											35	148					0	0	0	0
DDI2	84301	broad.mit.edu	37	1	15983119	15983119	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:15983119G>A	uc001awx.1	+	9	1287	c.1191G>A	c.(1189-1191)CAG>CAA	p.Q397Q	DDI2_uc009voj.1_Silent_p.Q138Q	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	397					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAGCGTCAGAAGCCATGAT	0.458		NA											39	93					0	0	0	0
C1orf89	79363	broad.mit.edu	37	1	16563180	16563180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:16563180C>T	uc001ayd.2	-	1	480	c.58G>A	c.(58-60)GAG>AAG	p.E20K		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	20					cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTGCCCTCGGCACTCTCG	0.632		NA											3	5					0	0	0	0
RCC2	55920	broad.mit.edu	37	1	17749292	17749292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:17749292C>G	uc001bal.2	-	4	611	c.564G>C	c.(562-564)AAG>AAC	p.K188N	RCC2_uc001bam.2_Missense_Mutation_p.K188N	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	188	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTTCTACTCTCTTGGTGTCAC	0.557		NA											21	68					0	0	0	0
IGSF21	84966	broad.mit.edu	37	1	18703351	18703351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:18703351G>A	uc001bau.1	+	8	1542	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	IGSF21_uc001bav.1_Missense_Mutation_p.D208N	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	387	Ig-like 2.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCGCCTCCTGGACGGCAGCGC	0.657		NA											20	43					0	0	0	0
AKR7L	246181	broad.mit.edu	37	1	19597298	19597298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:19597298C>T	uc010ocx.1	-	3	346	c.346G>A	c.(346-348)GAC>AAC	p.D116N	AKR7L_uc010ocy.1_Missense_Mutation_p.D116N	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						GCGCTGTGGTCAGGTGCATGT	0.622		NA											11	31					0	0	0	0
AHDC1	27245	broad.mit.edu	37	1	27876393	27876393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:27876393C>T	uc009vsy.2	-	6	3203	c.2234G>A	c.(2233-2235)CGG>CAG	p.R745Q	AHDC1_uc009vsz.1_Missense_Mutation_p.R745Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	745	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCATTCTTCCGGGACCGTCT	0.677		NA											10	43					0	0	0	0
OSCP1	127700	broad.mit.edu	37	1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:36883811C>G	uc001cap.2	-	11	1181	c.1099G>C	c.(1099-1101)GAG>CAG	p.E367Q	OSCP1_uc001caq.2_Missense_Mutation_p.E357Q	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	367					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCCGTGATCTCAAACTCCCCC	0.577		NA											7	36					0	0	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880305	42880305	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:42880305G>C	uc001chi.2	+	5	974	c.836G>C	c.(835-837)GGC>GCC	p.G279A		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	279	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GCTAATGTTGGCTTCCTAGCC	0.483		NA											23	270					0	0	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394969	43394969	+	Missense_Mutation	SNP	G	G	C	rs80359823		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43394969G>C	uc001cik.2	-	7	1409	c.884C>G	c.(883-885)ACG>AGG	p.T295R		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	295	Extracellular (Potential).		T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAAGATGCTCGTGGAGTAATA	0.572		NA											7	9					0	0	0	0
MPL	4352	broad.mit.edu	37	1	43812513	43812513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43812513C>G	uc001ciw.2	+	8	1261	c.1216C>G	c.(1216-1218)CTG>GTG	p.L406V	MPL_uc001civ.2_Missense_Mutation_p.L406V|MPL_uc009vwr.2_Missense_Mutation_p.L399V	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	406	Fibronectin type-III 2.|Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGTGGGCATCTGGAATTGGA	0.567		NA	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	80					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43907767	43907767	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43907767G>A	uc001cjk.1	+	41	5604	c.5142G>A	c.(5140-5142)AGG>AGA	p.R1714R		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2613						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTGGGAAGGAACTTCTTGC	0.527		NA											4	46					0	0	0	0
TMEM53	79639	broad.mit.edu	37	1	45120816	45120816	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45120816G>T	uc001cmc.2	-	3	285	c.249C>A	c.(247-249)ATC>ATA	p.I83I	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.I10I|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	83						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GAAGTGAAGGGATACCCAGTG	0.552		NA									OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					4.69e-08	5e-08	1	0
PTCH2	8643	broad.mit.edu	37	1	45295679	45295679	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45295679C>G	uc010olf.1	-	7	849	c.837G>C	c.(835-837)CTG>CTC	p.L279L	PTCH2_uc010olg.1_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	279	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCCCCCACTCAGCTCGTGAG	0.607		NA							Basal_Cell_Nevus_syndrome				10	42					0	0	0	0
LRRC41	10489	broad.mit.edu	37	1	46745255	46745255	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:46745255C>T	uc001cpn.2	-	8	2096	c.2052G>A	c.(2050-2052)GAG>GAA	p.E684E	LRRC41_uc010omb.1_Silent_p.E684E	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	684										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CTGGGCGCTTCTCAAACAGAC	0.552		NA											45	132					0	0	0	0
MKNK1	8569	broad.mit.edu	37	1	47046281	47046281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:47046281G>A	uc001cqb.2	-	4	399	c.155C>T	c.(154-156)TCT>TTT	p.S52F	MKNK1_uc010omd.1_5'UTR|MKNK1_uc001cqc.2_Missense_Mutation_p.S52F|MKNK1_uc009vyi.2_Missense_Mutation_p.S52F|MKNK1_uc010ome.1_5'UTR|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Missense_Mutation_p.S40F|MKNK1_uc010omf.1_Missense_Mutation_p.S52F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	52	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					AAGCAATTCAGAGGTCAGCTT	0.478		NA											22	41					0	0	0	0
OSBPL9	114883	broad.mit.edu	37	1	52246990	52246990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:52246990G>A	uc001cst.2	+	16	1430	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N	OSBPL9_uc001css.2_Missense_Mutation_p.D476N|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.D472N|OSBPL9_uc001csu.2_Missense_Mutation_p.D481N|OSBPL9_uc001csv.2_Missense_Mutation_p.D306N|OSBPL9_uc001csw.2_Missense_Mutation_p.D458N|OSBPL9_uc001csy.2_Missense_Mutation_p.D293N|OSBPL9_uc001csz.2_Missense_Mutation_p.D293N|OSBPL9_uc001cta.2_Missense_Mutation_p.D361N|OSBPL9_uc001ctb.2_Missense_Mutation_p.D256N	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	471					lipid transport		lipid binding			central_nervous_system(1)	1						ATTACCAAATGATACTGAAGA	0.358		NA											12	22					0	0	0	0
FAM151A	338094	broad.mit.edu	37	1	55081832	55081832	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:55081832G>T	uc001cxn.2	-	3	408	c.276C>A	c.(274-276)GTC>GTA	p.V92V	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	92						integral to membrane					0						CAGCCTCCAGGACTGTGATGT	0.408		NA											29	69					1.75e-11	1.88e-11	1	0
FGGY	55277	broad.mit.edu	37	1	59844477	59844477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:59844477C>G	uc001czi.3	+	5	734	c.522C>G	c.(520-522)TTC>TTG	p.F174L	FGGY_uc001czg.2_Missense_Mutation_p.F62L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F174L|FGGY_uc001czj.3_Missense_Mutation_p.F174L|FGGY_uc001czk.3_Missense_Mutation_p.F62L|FGGY_uc001czl.3_Missense_Mutation_p.F86L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	174					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TCCCGGACTTCTTATCGTGGA	0.393		NA											3	47					0	0	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337703	94337703	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:94337703C>T	uc001dqf.2	-	5	2030	c.1992G>A	c.(1990-1992)CTG>CTA	p.L664L	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCTCATCTTCAGTGCTTTGA	0.403		NA											72	151					0	0	0	0
AGL	178	broad.mit.edu	37	1	100346890	100346890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100346890C>T	uc001dsi.1	+	16	2444	c.2044C>T	c.(2044-2046)CCT>TCT	p.P682S	AGL_uc001dsj.1_Missense_Mutation_p.P682S|AGL_uc001dsk.1_Missense_Mutation_p.P682S|AGL_uc001dsl.1_Missense_Mutation_p.P682S|AGL_uc001dsm.1_Missense_Mutation_p.P666S|AGL_uc001dsn.1_Missense_Mutation_p.P665S	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	682	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGTGGAATCCTGAAGCATT	0.373		NA											19	58					0	0	0	0
AGL	178	broad.mit.edu	37	1	100366244	100366244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100366244C>G	uc001dsi.1	+	26	3815	c.3415C>G	c.(3415-3417)CTA>GTA	p.L1139V	AGL_uc001dsj.1_Missense_Mutation_p.L1139V|AGL_uc001dsk.1_Missense_Mutation_p.L1139V|AGL_uc001dsl.1_Missense_Mutation_p.L1139V|AGL_uc001dsm.1_Missense_Mutation_p.L1123V|AGL_uc001dsn.1_Missense_Mutation_p.L1122V	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1139	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATTCCTAATCTACTGGGTGA	0.398		NA											37	151					0	0	0	0
C1orf59	113802	broad.mit.edu	37	1	109191450	109191450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109191450G>C	uc001dvt.3	-	8	1158	c.920C>G	c.(919-921)TCA>TGA	p.S307*	C1orf59_uc001dvu.3_Nonsense_Mutation_p.S307*|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	307					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		AGGGGCCTTTGAGCCACCAAT	0.517		NA											9	56					0	0	0	0
GPSM2	29899	broad.mit.edu	37	1	109461321	109461321	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109461321G>A	uc010ovc.1	+	12	1846	c.1350G>A	c.(1348-1350)CTG>CTA	p.L450L	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Silent_p.L450L|GPSM2_uc010ove.1_Silent_p.L450L	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	450					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAGACTGAAGGGGAAAA	0.373		NA											9	56					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109795615	109795615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109795615G>A	uc001dxa.3	+	1	2975	c.2914G>A	c.(2914-2916)GAC>AAC	p.D972N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	972	Extracellular (Potential).|Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTCAGCTGGACATCTTCTC	0.592		NA											28	76					0	0	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577934	116577934	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:116577934G>A	uc001egb.3	+	7	1201	c.1071G>A	c.(1069-1071)TTG>TTA	p.L357L		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438		NA											12	28					0	0	0	0
WDR3	10885	broad.mit.edu	37	1	118483837	118483837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:118483837C>G	uc010oxe.1	+	8	946	c.880C>G	c.(880-882)CTT>GTT	p.L294V	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.L123V	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	294	WD 6.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCAGGATTCTTGCTTGCCA	0.413		NA											5	55					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368591	145368591	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:145368591C>T	uc001end.3	+	86	10829	c.10794C>T	c.(10792-10794)ATC>ATT	p.I3598I	NBPF9_uc010oye.1_Silent_p.I882I|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.I451I|NBPF10_uc010oyk.1_Silent_p.I239I|NBPF10_uc010oyl.1_Silent_p.I239I	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3523											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACAGCACATCAGCTTCGCCC	0.448		NA											59	461					0	0	0	0
CHD1L	9557	broad.mit.edu	37	1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:146756150G>A	uc001epm.3	+	16	1895	c.1832G>A	c.(1831-1833)CGA>CAA	p.R611Q	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R498Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R517Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R330Q|CHD1L_uc001epo.3_Missense_Mutation_p.R407Q|CHD1L_uc010ozq.1_Missense_Mutation_p.R184Q|CHD1L_uc009wji.2_Missense_Mutation_p.R330Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348		NA											17	63					0	0	0	0
MCL1	4170	broad.mit.edu	37	1	150551469	150551469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:150551469C>T	uc001euz.2	-	1	668	c.538G>A	c.(538-540)GAG>AAG	p.E180K	MCL1_uc010pch.1_Missense_Mutation_p.E70K|MCL1_uc001eva.2_Missense_Mutation_p.E180K	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	180					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGATAATCTCCAGCGACTGC	0.627		NA											25	59					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282333	152282333	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152282333G>C	uc001ezu.1	-	3	5065	c.5029C>G	c.(5029-5031)CCA>GCA	p.P1677A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1677	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCTCCTGGACTTGACCTT	0.567		NA							Ichthyosis				129	468					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152283709	152283709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283709C>G	uc001ezu.1	-	3	3689	c.3653G>C	c.(3652-3654)AGA>ACA	p.R1218T	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1218	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTTTGTCTGCTTGCACT	0.552		NA							Ichthyosis				126	378					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283989C>T	uc001ezu.1	-	3	3409	c.3373G>A	c.(3373-3375)GAA>AAA	p.E1125K	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1125	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.607		NA							Ichthyosis				124	299					0	0	0	0
FLG2	388698	broad.mit.edu	37	1	152323370	152323370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152323370G>A	uc001ezw.3	-	3	6965	c.6892C>T	c.(6892-6894)CAT>TAT	p.H2298Y	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2298							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCATGAGTAGTTTCC	0.483		NA											25	313					0	0	0	0
KPRP	448834	broad.mit.edu	37	1	152732722	152732722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152732722C>T	uc001fal.1	+	2	716	c.658C>T	c.(658-660)CAG>TAG	p.Q220*		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	220						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCCCTCAGTATCGGTC	0.577		NA											9	138					0	0	0	0
S100A16	140576	broad.mit.edu	37	1	153580541	153580541	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153580541G>C	uc001fcc.2	-	2	220	c.87C>G	c.(85-87)GTC>GTG	p.V29V	S100A16_uc001fcd.1_Silent_p.V29V	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	29	1; low affinity (Potential).|EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGTTCTTGACCAGGCTGT	0.532		NA											13	46					0	0	0	0
S100A14	57402	broad.mit.edu	37	1	153587810	153587810	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153587810G>C	uc001fce.2	-	3	176	c.78C>G	c.(76-78)ATC>ATG	p.I26M	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	26					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAGTTCTTGATGAGGGTCT	0.572		NA											20	38					0	0	0	0
NPR1	4881	broad.mit.edu	37	1	153661438	153661438	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153661438C>T	uc001fcs.3	+	16	2848	c.2427C>T	c.(2425-2427)AGC>AGT	p.S809S	NPR1_uc010pdz.1_Silent_p.S555S|NPR1_uc010pea.1_Silent_p.S287S	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	809	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGAACAGCAGCAACATCC	0.637		NA											32	100					0	0	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790563	153790563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153790563G>A	uc001fdb.3	-	5	926	c.682C>T	c.(682-684)CGG>TGG	p.R228W		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCAGGCCGAGAGGGAAGC	0.522		NA											46	129					0	0	0	0
DENND4B	9909	broad.mit.edu	37	1	153911479	153911479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153911479G>C	uc001fdd.1	-	13	2263	c.1862C>G	c.(1861-1863)TCT>TGT	p.S621C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	621	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCAGCTGAGAGTAAAGTTT	0.537		NA											4	17					0	0	0	0
HAX1	10456	broad.mit.edu	37	1	154246316	154246316	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:154246316C>G	uc001fes.2	+	3	544	c.383C>G	c.(382-384)TCA>TGA	p.S128*	HAX1_uc001fet.2_Nonsense_Mutation_p.S80*|HAX1_uc010peo.1_Nonsense_Mutation_p.S136*|HAX1_uc009wou.2_Nonsense_Mutation_p.S53*|HAX1_uc009wov.2_Nonsense_Mutation_p.S102*	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	128	Involved in HCLS1 binding.	Cleavage; by caspase-3.				actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCGGGACTCAATGCTTAAG	0.557		NA							Kostmann_syndrome				26	103					0	0	0	0
RUSC1	23623	broad.mit.edu	37	1	155295461	155295461	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:155295461C>T	uc001fkj.2	+	6	2041	c.1812C>T	c.(1810-1812)CTC>CTT	p.L604L	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.L604L|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Silent_p.L135L|RUSC1_uc001fkl.2_Silent_p.L194L|RUSC1_uc001fkp.2_Silent_p.L135L|RUSC1_uc001fkq.2_Silent_p.L135L|RUSC1_uc010pgb.1_Silent_p.L102L|RUSC1_uc009wqp.1_Silent_p.L129L|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Silent_p.L135L|RUSC1_uc001fks.2_5'UTR	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	604	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGGCCTCCTCAAGTGAGTTG	0.612		NA											9	15					0	0	0	0
BCAN	63827	broad.mit.edu	37	1	156621404	156621405	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621404_156621405CC>TT	uc001fpp.2	+	7	1556_1557	c.1220_1221CC>TT	c.(1219-1221)TCC>TTT	p.S407F	BCAN_uc001fpo.2_Missense_Mutation_p.S407F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	407	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCATCTACTCCATCCCCATCA	0.569		NA											9	90					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157556066	157556066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:157556066C>G	uc001fqw.2	-	6	1163	c.1027G>C	c.(1027-1029)GAG>CAG	p.E343Q	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	343	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTCCAGCTCTGCTCTCAGG	0.582		NA											24	70					0	0	0	0
F11R	50848	broad.mit.edu	37	1	160970527	160970527	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:160970527G>A	uc009wtt.2	-	4	552	c.282C>T	c.(280-282)ATC>ATT	p.I94I	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Silent_p.I94I|F11R_uc009wtu.2_Silent_p.I94I|F11R_uc010pjw.1_Silent_p.I98I|F11R_uc001fxf.3_Silent_p.I94I	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	94	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537		NA											9	46					0	0	0	0
NR1I3	9970	broad.mit.edu	37	1	161199674	161199674	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161199674C>G	uc001fzx.2	-	9	1175	c.972G>C	c.(970-972)CGG>CGC	p.R324R	TOMM40L_uc010pkl.1_3'UTR|TOMM40L_uc001fzd.2_3'UTR|TOMM40L_uc009wue.2_3'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_3'UTR|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Silent_p.R296R|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Silent_p.R291R|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Silent_p.R252R|NR1I3_uc001fzm.2_Silent_p.R245R|NR1I3_uc001fzn.2_Silent_p.R114R|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.R329R|NR1I3_uc001fzo.2_Silent_p.R153R|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_3'UTR|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Silent_p.R114R|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_3'UTR|NR1I3_uc001fzw.2_Intron|NR1I3_uc001fzy.2_Silent_p.R320R|NR1I3_uc001fzz.2_Silent_p.R286R|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Silent_p.R281R|NR1I3_uc001gac.2_Intron	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	324					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATTAATGCTCCGGAGCTCAG	0.557		NA											15	44					0	0	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476260	161476260	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161476260C>G	uc001gan.2	+	3	296	c.243C>G	c.(241-243)CTC>CTG	p.L81L	FCGR2A_uc001gam.2_Silent_p.L80L|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	81	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.597		NA											13	75					0	0	0	0
UHMK1	127933	broad.mit.edu	37	1	162470803	162470803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:162470803C>T	uc001gcc.1	+	3	798	c.662C>T	c.(661-663)TCA>TTA	p.S221L	UHMK1_uc001gcb.1_Missense_Mutation_p.S147L|UHMK1_uc009wuu.1_Missense_Mutation_p.S221L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	221	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGTACCTCAGCTGTTGAT	0.443		NA											6	39					0	0	0	0
C1orf49	84066	broad.mit.edu	37	1	178491564	178491564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:178491564G>A	uc001glt.1	+	9	803	c.691G>A	c.(691-693)GAG>AAG	p.E231K	C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_Intron|C1orf49_uc001glw.1_Intron	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	231						microtubule cytoskeleton					0						gtcccagactgagggaaggtg	0.045		NA											5	9					0	0	0	0
DHX9	1660	broad.mit.edu	37	1	182853912	182853912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:182853912C>T	uc001gpr.2	+	27	3588	c.3425C>T	c.(3424-3426)TCA>TTA	p.S1142L	DHX9_uc001gps.2_Missense_Mutation_p.S928L|DHX9_uc001gpt.2_Missense_Mutation_p.S421L|DHX9_uc009wyd.2_Missense_Mutation_p.S107L	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1142					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TCTAGACCCTCAGCTGCTGGT	0.448		NA											29	63					0	0	0	0
OCLM	10896	broad.mit.edu	37	1	186370311	186370311	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:186370311G>C	uc001gry.2	+	1	608	c.134G>C	c.(133-135)TGA>TCA	p.*45S	C1orf27_uc001grw.2_Intron|C1orf27_uc010poq.1_Intron|C1orf27_uc010por.1_Intron	NM_022375	NP_071770	Q9Y5M6	TISR_HUMAN	oculomedin	45					visual perception						0						TTAGTACTTTGAAATTTTTGC	0.289		NA											8	21					0	0	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150249	193150249	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:193150249C>T	uc001gtc.3	-	2	1159	c.444G>A	c.(442-444)GAG>GAA	p.E148E	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	148	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						AAGGACTTTTCTCTTGGCATT	0.368		NA											29	67					0	0	0	0
KDM5B	10765	broad.mit.edu	37	1	202725518	202725518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:202725518C>G	uc001gyf.2	-	10	1440	c.1324G>C	c.(1324-1326)GAT>CAT	p.D442H	KDM5B_uc009xag.2_Missense_Mutation_p.D478H|KDM5B_uc001gyg.1_Missense_Mutation_p.D284H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	442					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ATTTTCCCATCTCGGACAGGA	0.418		NA											40	92					0	0	0	0
DSTYK	25778	broad.mit.edu	37	1	205138659	205138659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205138659T>C	uc001hbw.2	-	3	1020	c.956A>G	c.(955-957)AAC>AGC	p.N319S	DSTYK_uc001hbx.2_Missense_Mutation_p.N319S|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	319						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AGCCCCACAGTTCCAGTGACT	0.498		NA											10	52					0	0	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779420	205779420	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205779420C>G	uc001hdh.1	-	2	1022	c.150G>C	c.(148-150)GTG>GTC	p.V50V		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	50						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGACTCAATCACCACCTCTA	0.642		NA									OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	0	0
SYT14	255928	broad.mit.edu	37	1	210334211	210334211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334211G>A	uc009xcv.2	+	8	1564	c.1492G>A	c.(1492-1494)GAT>AAT	p.D498N	SYT14_uc001hhs.3_Missense_Mutation_p.D562N|SYT14_uc001hht.3_Missense_Mutation_p.D517N|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.D543N|SYT14_uc010pso.1_Missense_Mutation_p.D460N|SYT14_uc010psp.1_Missense_Mutation_p.D36N	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	498	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAGCTTTCTGATGTGACACT	0.418		NA											18	76					0	0	0	0
SYT14	255928	broad.mit.edu	37	1	210334216	210334216	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334216G>A	uc009xcv.2	+	8	1569	c.1497G>A	c.(1495-1497)GTG>GTA	p.V499V	SYT14_uc001hhs.3_Silent_p.V563V|SYT14_uc001hht.3_Silent_p.V518V|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.V544V|SYT14_uc010pso.1_Silent_p.V461V|SYT14_uc010psp.1_Silent_p.V37V	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	499	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTCTGATGTGACACTCATAC	0.418		NA											17	77					0	0	0	0
ESRRG	2104	broad.mit.edu	37	1	216850530	216850530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:216850530G>A	uc001hkw.1	-	2	526	c.360C>T	c.(358-360)CTC>CTT	p.L120L	ESRRG_uc001hky.1_Silent_p.L97L|ESRRG_uc009xdp.1_Silent_p.L97L|ESRRG_uc001hkz.1_Silent_p.L97L|ESRRG_uc010puc.1_Silent_p.L97L|ESRRG_uc001hla.1_Silent_p.L97L|ESRRG_uc001hlb.1_Silent_p.L97L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.L97L|ESRRG_uc001hld.1_Silent_p.L97L|ESRRG_uc001hkx.1_Silent_p.L125L|ESRRG_uc009xdo.1_Silent_p.L97L|ESRRG_uc001hle.1_Silent_p.L97L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	120					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCATCGAGTTGAGCATGTATT	0.502		NA											23	103					0	0	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219384873	219384873	+	Nonsense_Mutation	SNP	C	C	T	rs140122550		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:219384873C>T	uc001hlq.3	+	5	558	c.517C>T	c.(517-519)CAG>TAG	p.Q173*	LYPLAL1_uc001hlr.3_Nonsense_Mutation_p.Q157*|LYPLAL1_uc001hls.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc001hlt.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc009xds.2_Nonsense_Mutation_p.Q122*	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	173						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGAATTATTTCAGTGTCATGG	0.353		NA											29	104					0	0	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941206	232941206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:232941206C>G	uc001hvh.2	+	1	569	c.437C>G	c.(436-438)TCG>TGG	p.S146W		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	4										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATGGCGGCCTCGCTGTCCGAG	0.632		NA											7	14					0	0	0	0
ARID4B	51742	broad.mit.edu	37	1	235345584	235345584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:235345584C>A	uc001hwq.2	-	20	3148	c.2650G>T	c.(2650-2652)GAA>TAA	p.E884*	ARID4B_uc001hwr.2_Nonsense_Mutation_p.E798*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E798*|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E565*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCTTTTTTCCTCCAAACCA	0.343		NA											7	101					0.00307968	0.00316034	1	0
MAP1LC3C	440738	broad.mit.edu	37	1	242162283	242162283	+	Missense_Mutation	SNP	C	C	T	rs141733716	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:242162283C>T	uc001hzk.2	-	1	103	c.28G>A	c.(28-30)GTC>ATC	p.V10I		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	10					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGGGTCTGACGCTTGGGATT	0.458		NA									OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	0	0
OR2C3	81472	broad.mit.edu	37	1	247694956	247694956	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:247694956C>G	uc009xgy.2	-	2	1220	c.858G>C	c.(856-858)CTG>CTC	p.L286L	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAGTGGGTTCAGCGCAGGAG	0.547		NA											7	93					0	0	0	0
OR2W3	343171	broad.mit.edu	37	1	248059216	248059216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:248059216G>C	uc001idp.1	+	3	597	c.328G>C	c.(328-330)GTG>CTG	p.V110L	OR2W3_uc010pzb.1_Missense_Mutation_p.V110L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGGGTGGTGTGGAGTGCCT	0.577		NA											23	60					0	0	0	0
SVIL	6840	broad.mit.edu	37	10	29821937	29821937	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:29821937C>A	uc001iut.1	-	8	2112	c.1359G>T	c.(1357-1359)AAG>AAT	p.K453N	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.K453N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	453					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GTAGGGTTTTCTTGCTTTGCT	0.383		NA											25	38					0.00106085	0.00109673	1	0
DNA2	1763	broad.mit.edu	37	10	70231756	70231756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:70231756G>A	uc001jof.2	-	1	124	c.124C>T	c.(124-126)CAT>TAT	p.H42Y	DNA2_uc001jog.1_5'Flank|DNA2_uc001joh.1_Intron	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	Error:Variant_position_missing_in_P51530_after_alignment					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TGTCCCAAATGACCTGCGCCA	0.657		NA											17	20					0	0	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492036	72492036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:72492036C>T	uc001jrh.2	+	7	1129	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y	ADAMTS14_uc001jrg.2_Missense_Mutation_p.H380Y|ADAMTS14_uc001jri.1_5'Flank	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	377	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G377D(1)		ovary(5)|upper_aerodigestive_tract(1)	6						TGGCATGTGTCACCCCCTGAG	0.597		NA											3	23					0	0	0	0
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:115368262G>A	uc001laj.2	-	32	3777	c.3613C>T	c.(3613-3615)CGG>TGG	p.R1205W	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1170W|NRAP_uc001lal.3_Missense_Mutation_p.R1205W	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1205	Nebulin 31.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438		NA											60	116					0	0	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012379	134012379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:134012379G>A	uc009ybb.2	+	8	869	c.715G>A	c.(715-717)GCT>ACT	p.A239T		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	239					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGTGTACCGAGCTGTCACCAT	0.657		NA											4	41					0	0	0	0
SCUBE2	57758	broad.mit.edu	37	11	9087482	9087482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:9087482G>A	uc001mhh.1	-	7	886	c.806C>T	c.(805-807)TCA>TTA	p.S269L	SCUBE2_uc001mhi.1_Missense_Mutation_p.S269L|SCUBE2_uc001mhj.1_Missense_Mutation_p.S269L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	269						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATCCACCACTGATGTGGTGTT	0.522		NA											14	43					0	0	0	0
EIF4G2	1982	broad.mit.edu	37	11	10828424	10828424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:10828424G>C	uc001mjc.2	-	3	467	c.50C>G	c.(49-51)TCG>TGG	p.S17W	EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.S17W|EIF4G2_uc001mjf.1_5'UTR	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	17					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCTCCGCCCGAAGAAGCACT	0.358		NA											27	94					0	0	0	0
SPON1	10418	broad.mit.edu	37	11	14280917	14280917	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14280917G>A	uc001mle.2	+	13	2122	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	528	TSP type-1 2.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AGAGGTATGTGAAGCAGTTCC	0.652		NA											3	13					0	0	0	0
COPB1	1315	broad.mit.edu	37	11	14486569	14486569	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14486569C>T	uc001mli.2	-	18	2605	c.2298G>A	c.(2296-2298)CTG>CTA	p.L766L	COPB1_uc001mlg.2_Silent_p.L766L|COPB1_uc001mlh.2_Silent_p.L766L	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	766					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						CCACAAGTTTCAGATCCCCTG	0.274		NA											10	18					0	0	0	0
COPB1	1315	broad.mit.edu	37	11	14507935	14507935	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14507935G>C	uc001mli.2	-	7	1122	c.815C>G	c.(814-816)TCT>TGT	p.S272C	COPB1_uc001mlg.2_Missense_Mutation_p.S272C|COPB1_uc001mlh.2_Missense_Mutation_p.S272C	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	272	HEAT 3.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						TGGTGCACTAGAGAGTGTCAC	0.398		NA											12	93					0	0	0	0
SAAL1	113174	broad.mit.edu	37	11	18105261	18105261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:18105261C>T	uc001mnq.2	-	10	1110	c.1060G>A	c.(1060-1062)GAC>AAC	p.D354N	SAAL1_uc001mnr.2_Missense_Mutation_p.D353N|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.D356N	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	354					acute-phase response	extracellular region	binding				0						ATGAGGCTGTCAATTAGAGGA	0.318		NA											4	30					0	0	0	0
CCDC34	91057	broad.mit.edu	37	11	27384432	27384432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:27384432C>G	uc001mrh.1	-	1	364	c.310G>C	c.(310-312)GAG>CAG	p.E104Q	CCDC34_uc001mri.1_Missense_Mutation_p.E104Q	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	104											0						ACTTTGGCCTCTGAATCATGG	0.572		NA											27	81					0	0	0	0
C11orf41	25758	broad.mit.edu	37	11	33566371	33566371	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:33566371G>A	uc001mup.3	+	2	2083	c.1959G>A	c.(1957-1959)CTG>CTA	p.L653L	C11orf41_uc001mun.1_Silent_p.L653L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	647						integral to membrane				ovary(2)	2						CATTGTTTCTGAGGAAATCAA	0.512		NA											8	17					0	0	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34107680	34107680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:34107680C>G	uc001mvh.1	+	10	1225	c.1036C>G	c.(1036-1038)CCA>GCA	p.P346A	CAPRIN1_uc001mvg.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P265A	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	346					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTCTTTGACTCCAGTGGCTCA	0.458		NA											5	48					0	0	0	0
ALKBH3	221120	broad.mit.edu	37	11	43911373	43911373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:43911373G>C	uc001mxs.2	+	6	808	c.365G>C	c.(364-366)AGA>ACA	p.R122T	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	122				R->A: Decreases activity towards ssDNA by 25%. Loss of activity towards dsDNA.	DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	ACTGGCATCAGAGAGGGTAAG	0.478		NA						Direct_reversal_of_damage					11	31					0	0	0	0
PRDM11	56981	broad.mit.edu	37	11	45241256	45241256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:45241256G>A	uc001myo.2	+	7	1041	c.792G>A	c.(790-792)ATG>ATA	p.M264I		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	264	SET.									upper_aerodigestive_tract(1)	1						AGGACTACATGAAGCGCCTGC	0.637		NA											13	31					0	0	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069957	57069957	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:57069957G>A	uc001njr.2	-	6	4971	c.4659C>T	c.(4657-4659)CCC>CCT	p.P1553P	TNKS1BP1_uc001njp.2_Silent_p.P125P|TNKS1BP1_uc001njq.2_Silent_p.P125P|TNKS1BP1_uc001njs.2_Silent_p.P1553P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1553	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				AGTCCTGACTGGGGGATCTGG	0.637		NA											5	20					0	0	0	0
FAM111A	63901	broad.mit.edu	37	11	58919875	58919875	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58919875A>G	uc010rkp.1	+	5	961	c.734A>G	c.(733-735)AAC>AGC	p.N245S	FAM111A_uc010rkq.1_Missense_Mutation_p.N245S|FAM111A_uc010rkr.1_Missense_Mutation_p.N245S|FAM111A_uc001nno.2_Missense_Mutation_p.N245S|FAM111A_uc001nnp.2_Missense_Mutation_p.N245S|FAM111A_uc001nnq.2_Missense_Mutation_p.N245S	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	245					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				CTCATTGAAAACAATGACACC	0.418		NA											15	73					0	0	0	0
DTX4	23220	broad.mit.edu	37	11	58972245	58972245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58972245G>A	uc001nns.2	+	9	1980	c.1723G>A	c.(1723-1725)GAG>AAG	p.E575K	DTX4_uc001nnr.2_Missense_Mutation_p.E469K	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	575					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CATCTGGAATGAGGTCCACCA	0.562		NA											4	18					0	0	0	0
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:59283051G>C	uc010rkv.1	+	1	666	c.666G>C	c.(664-666)TTG>TTC	p.L222F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CGGTCATCTTGATGATGCTGA	0.498		NA											27	156					0	0	0	0
C11orf9	745	broad.mit.edu	37	11	61548770	61548770	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:61548770C>T	uc001nsc.1	+	21	2829	c.2733C>T	c.(2731-2733)AGC>AGT	p.S911S	C11orf9_uc001nse.1_Silent_p.S876S|C11orf9_uc010rll.1_Silent_p.S302S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	911					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						atgttctcagcccaagtccca	0.353		NA											18	47					0	0	0	0
LGALS12	85329	broad.mit.edu	37	11	63283183	63283183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63283183G>A	uc001nxa.2	+	8	1203	c.862G>A	c.(862-864)GAG>AAG	p.E288K	LGALS12_uc001nxb.2_Missense_Mutation_p.E279K|LGALS12_uc001nxc.2_Missense_Mutation_p.E289K|LGALS12_uc001nxd.2_Missense_Mutation_p.E227K|LGALS12_uc001nxe.2_Missense_Mutation_p.E218K|LGALS12_uc009yot.2_Missense_Mutation_p.E248K	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	288	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						GAGATTCTTTGAGGTAGGTCA	0.557		NA											11	37					0	0	0	0
C11orf84	144097	broad.mit.edu	37	11	63581231	63581231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63581231G>A	uc001nxt.2	+	1	309	c.73G>A	c.(73-75)GAG>AAG	p.E25K		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	25											0						AGGGGAGGACGAGGAGGAGGC	0.677		NA											9	29					0	0	0	0
FERMT3	83706	broad.mit.edu	37	11	63990903	63990903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63990903G>A	uc001nyl.2	+	15	2092	c.1943G>A	c.(1942-1944)CGT>CAT	p.R648H	FERMT3_uc001nym.2_Missense_Mutation_p.R644H|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	648					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GAGCGGGCCCGTGGGGAGGAG	0.612		NA											8	42					0	0	0	0
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:64082296G>A	uc001nzq.1	+	5	832	c.655G>A	c.(655-657)GAT>AAT	p.D219N	ESRRA_uc001nzr.1_Missense_Mutation_p.D218N|ESRRA_uc001nzs.1_Missense_Mutation_p.D219N|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						CGCAGGCCCTGATGGGCACCT	0.587		NA											17	50					0	0	0	0
AIP	9049	broad.mit.edu	37	11	67254633	67254633	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:67254633G>C	uc001olv.2	+	2	381	c.256G>C	c.(256-258)GCC>CCC	p.A86P		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	86	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0						AGGGGAGATTGCCCAGTTCCT	0.582		NA							Familial_Isolated_Pituitary_Adenoma_				11	129					0	0	0	0
ARAP1	116985	broad.mit.edu	37	11	72409008	72409008	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:72409008G>A	uc001osu.2	-	19	2874	c.2685C>T	c.(2683-2685)TTC>TTT	p.F895F	ARAP1_uc001osv.2_Silent_p.F895F|ARAP1_uc001osr.2_Silent_p.F655F|ARAP1_uc001oss.2_Silent_p.F650F|ARAP1_uc009yth.2_Silent_p.F589F|ARAP1_uc010rre.1_Silent_p.F650F|ARAP1_uc001osw.1_Silent_p.F183F	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	895					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GCCCCTCCGGGAAGACAGCAC	0.657		NA											3	21					0	0	0	0
RNF169	254225	broad.mit.edu	37	11	74546869	74546869	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:74546869C>G	uc001ovl.3	+	6	1234	c.1221C>G	c.(1219-1221)ATC>ATG	p.I407M	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	407							zinc ion binding			ovary(1)	1						CTCTCATCATCAAATCAACTC	0.493		NA											38	120					0	0	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062393	76062393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76062393C>T	uc001oxh.1	-	5	1801	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	PRKRIR_uc010rrz.1_Missense_Mutation_p.A426T	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CATTTAAGAGCTTTGAGGTGC	0.413		NA											37	89					0	0	0	0
MYO7A	4647	broad.mit.edu	37	11	76873901	76873901	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76873901C>T	uc001oyb.2	+	14	1829	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G	MYO7A_uc010rsl.1_Silent_p.G519G|MYO7A_uc010rsm.1_Silent_p.G508G|MYO7A_uc001oyc.2_Silent_p.G519G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	519	Myosin head-like.		G -> D (in USH1B; the deleterious effect remains to be proven).		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CTCCCCAGGGCACAGACACCA	0.597		NA											38	87					0	0	0	0
USP35	57558	broad.mit.edu	37	11	77920693	77920693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:77920693C>G	uc009yva.1	+	10	2038	c.1792C>G	c.(1792-1794)CTC>GTC	p.L598V	USP35_uc001oze.2_Missense_Mutation_p.L354V|USP35_uc001ozc.2_Missense_Mutation_p.L166V|USP35_uc010rsp.1_Missense_Mutation_p.L30V|USP35_uc001ozd.2_Missense_Mutation_p.L209V|USP35_uc001ozf.2_Missense_Mutation_p.L329V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	598					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCTCTCTCTCGCCTTCCC	0.622		NA											10	132					0	0	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023720	110023720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:110023720G>C	uc009yxw.2	+	3	901	c.850G>C	c.(850-852)GAC>CAC	p.D284H	ZC3H12C_uc010rwc.1_Missense_Mutation_p.D285H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.D285H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.D253H|ZC3H12C_uc001pkq.2_Missense_Mutation_p.D253H	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	284							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGGCCACAAAGACATTACAGT	0.428		NA											3	7					0	0	0	0
IL10RA	3587	broad.mit.edu	37	11	117860224	117860224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:117860224G>A	uc001prv.2	+	3	333	c.256G>A	c.(256-258)GTG>ATG	p.V86M	IL10RA_uc010rxl.1_Missense_Mutation_p.V66M|IL10RA_uc010rxm.1_Missense_Mutation_p.V66M|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_Translation_Start_Site	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	86	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCTTACCGCAGTGACCTTGGA	0.577		NA											28	37					0	0	0	0
ARCN1	372	broad.mit.edu	37	11	118453900	118453900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:118453900G>A	uc001ptq.2	+	3	435	c.274G>A	c.(274-276)GAA>AAA	p.E92K	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.E4K|ARCN1_uc009zag.2_Missense_Mutation_p.E133K	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	92					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAGATCCCTGAATATTGCCG	0.348		NA											35	53					0	0	0	0
OR10G4	390264	broad.mit.edu	37	11	123886938	123886938	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:123886938C>A	uc010sac.1	+	1	657	c.657C>A	c.(655-657)TCC>TCA	p.S219S		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	219	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)		CCTATGTGTCCATCGTCTGTT	0.542		NA											36	60					5.83e-16	6.33e-16	1	0
TMEM45B	120224	broad.mit.edu	37	11	129724648	129724648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:129724648C>G	uc001qfe.1	+	3	383	c.322C>G	c.(322-324)CTG>GTG	p.L108V	TMEM45B_uc001qff.1_Missense_Mutation_p.L108V	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	108	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCTCACCTATCTGGTCAGCCA	0.483		NA											29	40					0	0	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662840	662840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:662840G>A	uc001qii.1	+	14	1751	c.1751G>A	c.(1750-1752)GGA>GAA	p.G584E	B4GALNT3_uc001qij.1_Missense_Mutation_p.G487E|B4GALNT3_uc001qik.1_Missense_Mutation_p.G133E	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	584	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGCCCCTGGAAGGGGCTGG	0.517		NA											9	36					0	0	0	0
AKAP3	10566	broad.mit.edu	37	12	4736776	4736776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:4736776C>G	uc001qnb.3	-	4	1521	c.1292G>C	c.(1291-1293)AGA>ACA	p.R431T		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	431					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						CATTTTTTCTCTCAATTTAGT	0.408		NA											21	108					0	0	0	0
LTBR	4055	broad.mit.edu	37	12	6499994	6499994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:6499994C>G	uc001qny.1	+	10	1367	c.1199C>G	c.(1198-1200)TCT>TGT	p.S400C	LTBR_uc010sfc.1_Missense_Mutation_p.S381C|LTBR_uc001qnz.1_Missense_Mutation_p.S395C	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	400	Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			lung(2)	2						CCCGGGCTCTCTACACCCCAC	0.632		NA											56	123					0	0	0	0
C12orf57	113246	broad.mit.edu	37	12	7054986	7054986	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7054986G>A	uc001qrz.2	+	3	364	c.282G>A	c.(280-282)GAG>GAA	p.E94E	PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	C10 protein	94											0						AGGATCCTGAGATCGCCAGCC	0.617		NA											8	26					0	0	0	0
C1RL	51279	broad.mit.edu	37	12	7260991	7260991	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7260991C>T	uc001qsn.2	-	2	173	c.156G>A	c.(154-156)CTG>CTA	p.L52L	C1RL_uc009zft.2_Silent_p.L52L|C1RL_uc001qso.1_Silent_p.L52L|LOC283314_uc001qsp.2_RNA|LOC283314_uc010sgb.1_5'Flank	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	52	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						CGGGGGATGTCAGCTGCTGGG	0.632		NA											18	55					0	0	0	0
KLRC3	3823	broad.mit.edu	37	12	10570960	10570960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:10570960C>G	uc001qyf.2	-	4	514	c.469G>C	c.(469-471)GAT>CAT	p.D157H	KLRC3_uc001qyh.2_Missense_Mutation_p.D157H|KLRC3_uc001qyi.1_Missense_Mutation_p.D157H|KLRC3_uc010shc.1_Nonstop_Mutation_p.*140Y|KLRC3_uc010shd.1_3'UTR	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	157	C-type lectin.|Extracellular (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						TCTTCATTATCTATACAAAGC	0.323		NA											29	84					0	0	0	0
C12orf69	440087	broad.mit.edu	37	12	14959195	14959195	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:14959195G>A	uc001rck.1	-	2	493	c.420C>T	c.(418-420)GTC>GTT	p.V140V	WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	hypothetical protein LOC440087	140						integral to membrane					0						TGCCAGTTGTGACATTTGAGC	0.438		NA											5	110					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20799804	20799804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:20799804C>A	uc001reh.1	+	12	2507	c.2485C>A	c.(2485-2487)CTG>ATG	p.L829M		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	829	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTTGATGGCGCTGTATGTGGC	0.428		NA											33	126					1.63e-12	1.75e-12	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21358889	21358889	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:21358889C>G	uc001req.3	+	11	1523	c.1419C>G	c.(1417-1419)GTC>GTG	p.V473V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	473	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGGAACCAGTCTGTGGAAACA	0.368		NA											11	82					0	0	0	0
SSPN	8082	broad.mit.edu	37	12	26377309	26377309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:26377309G>C	uc001rhe.2	+	2	463	c.363G>C	c.(361-363)ATG>ATC	p.M121I	SSPN_uc001rhd.2_Missense_Mutation_p.M18I|SSPN_uc009zjf.2_Missense_Mutation_p.M121I|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	121	Cytoplasmic (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)					AATTTTCTATGAAAGTAAGTT	0.373		NA											45	152					0	0	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27834486	27834486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:27834486G>C	uc001ric.1	+	21	2298	c.1921G>C	c.(1921-1923)GAT>CAT	p.D641H	PPFIBP1_uc010sjr.1_Missense_Mutation_p.D472H|PPFIBP1_uc001rib.1_Missense_Mutation_p.D635H|PPFIBP1_uc001ria.2_Missense_Mutation_p.D610H|PPFIBP1_uc001rid.1_Missense_Mutation_p.D488H|PPFIBP1_uc001rif.1_Missense_Mutation_p.D148H	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	641					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TAGTGACTTGGATATGCCATT	0.418		NA											11	103					0	0	0	0
OVCH1	341350	broad.mit.edu	37	12	29649538	29649538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:29649538G>C	uc001rix.1	-	2	134	c.134C>G	c.(133-135)TCT>TGT	p.S45C		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	45	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTAATTCTAGAGAAGAATCT	0.413		NA											40	90					0	0	0	0
C12orf35	55196	broad.mit.edu	37	12	32135670	32135670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:32135670C>G	uc001rks.2	+	4	2195	c.1781C>G	c.(1780-1782)ACT>AGT	p.T594S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	594										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GCACGTAAGACTCAGAAGACA	0.358		NA											11	16					0	0	0	0
ARID2	196528	broad.mit.edu	37	12	46231439	46231439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:46231439G>A	uc001ros.1	+	10	1279	c.1279G>A	c.(1279-1281)GAA>AAA	p.E427K	ARID2_uc001ror.2_Missense_Mutation_p.E427K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.E73K|ARID2_uc001rot.1_Missense_Mutation_p.E73K	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCTCACGGAAATGGGAGA	0.378		NA											18	39					0	0	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143273	48143273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48143273G>A	uc009zkp.2	-	9	1255	c.815C>T	c.(814-816)GCT>GTT	p.A272V	RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.A272V|RAPGEF3_uc001rpz.3_Missense_Mutation_p.A314V|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.A326V|RAPGEF3_uc001rqb.3_Missense_Mutation_p.A314V	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	272					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATTCACCAGAGCCAGCTGTCC	0.498		NA											9	62					0	0	0	0
OR8S1	341568	broad.mit.edu	37	12	48920205	48920205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48920205C>T	uc010slu.1	+	1	791	c.791C>T	c.(790-792)TCA>TTA	p.S264L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGCCAAACTCAGGTTCCCCC	0.498		NA											24	72					0	0	0	0
CCNT1	904	broad.mit.edu	37	12	49088089	49088089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49088089G>A	uc001rse.1	-	9	1231	c.908C>T	c.(907-909)TCA>TTA	p.S303L	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S18L	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	303					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						GGTAGAAGTTGACATGCTCAT	0.493		NA											31	61					0	0	0	0
FKBP11	51303	broad.mit.edu	37	12	49315828	49315828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49315828C>G	uc001rsp.2	-	6	664	c.545G>C	c.(544-546)AGA>ACA	p.R182T	FKBP11_uc010sma.1_Missense_Mutation_p.R80T|FKBP11_uc001rsq.3_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	182					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GACTTTGGGTCTATTGGCCTT	0.408		NA											7	104					0	0	0	0
PRPF40B	25766	broad.mit.edu	37	12	50035744	50035744	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:50035744C>T	uc001rur.1	+	18	1819	c.1755C>T	c.(1753-1755)GTC>GTT	p.V585V	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.V607V|PRPF40B_uc001ruq.1_Silent_p.V572V|PRPF40B_uc001rus.1_Silent_p.V528V|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	585					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						TCGCCCACGTCATAAGCTTTG	0.597		NA											31	78					0	0	0	0
KRT5	3852	broad.mit.edu	37	12	52910942	52910942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:52910942C>G	uc001san.2	-	6	1330	c.1167G>C	c.(1165-1167)ATG>ATC	p.M389I	KRT5_uc009zmh.2_Missense_Mutation_p.M389I	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	389	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATCCGGTTCATCTCAGAGA	0.522		NA											26	99					0	0	0	0
OR6C6	283365	broad.mit.edu	37	12	55688558	55688558	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:55688558G>A	uc010sph.1	-	1	459	c.459C>T	c.(457-459)ATC>ATT	p.I153I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						GGGGAAATATGATTAAGAATC	0.418		NA											8	49					0	0	0	0
STAT2	6773	broad.mit.edu	37	12	56740694	56740694	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:56740694C>A	uc001slc.2	-	20	1848	c.1770G>T	c.(1768-1770)CTG>CTT	p.L590L	STAT2_uc001slb.2_Silent_p.L132L|STAT2_uc001sld.2_Silent_p.L586L	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	590	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TGGTCTTCTTCAGCAGCCGGC	0.607		NA											21	95					6.33e-15	6.86e-15	1	0
NACA	4666	broad.mit.edu	37	12	57106570	57106570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106570C>T	uc001slz.2	-	7	982	c.633G>A	c.(631-633)ATG>ATA	p.M211I	NACA_uc001sly.2_Missense_Mutation_p.M211I|NACA_uc009zoy.1_Missense_Mutation_p.M2074I|NACA_uc001smc.2_Missense_Mutation_p.M211I|NACA_uc001sma.2_Missense_Mutation_p.M921I|NACA_uc001smb.2_Missense_Mutation_p.M211I|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	211	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						GAACACTTACCATAATCGCAT	0.403		NA	T	BCL6	NHL								17	79					0	0	0	0
NACA	4666	broad.mit.edu	37	12	57106606	57106606	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106606C>T	uc001slz.2	-	7	946	c.597G>A	c.(595-597)CTG>CTA	p.L199L	NACA_uc001sly.2_Silent_p.L199L|NACA_uc009zoy.1_Silent_p.L2062L|NACA_uc001smc.2_Silent_p.L199L|NACA_uc001sma.2_Silent_p.L909L|NACA_uc001smb.2_Silent_p.L199L|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	199	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						TGTTGTTCTTCAGGGCTCGGA	0.423		NA	T	BCL6	NHL								15	84					0	0	0	0
NACA	4666	broad.mit.edu	37	12	57106659	57106659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106659C>G	uc001slz.2	-	7	893	c.544G>C	c.(544-546)GAA>CAA	p.E182Q	NACA_uc001sly.2_Missense_Mutation_p.E182Q|NACA_uc009zoy.1_Missense_Mutation_p.E2045Q|NACA_uc001smc.2_Missense_Mutation_p.E182Q|NACA_uc001sma.2_Missense_Mutation_p.E892Q|NACA_uc001smb.2_Missense_Mutation_p.E182Q|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	182	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						ATGACCAATTCAATGTCCTTA	0.403		NA	T	BCL6	NHL								10	91					0	0	0	0
NACA	4666	broad.mit.edu	37	12	57106861	57106861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106861C>G	uc001slz.2	-	6	844	c.495G>C	c.(493-495)GAG>GAC	p.E165D	NACA_uc001sly.2_Missense_Mutation_p.E165D|NACA_uc009zoy.1_Missense_Mutation_p.E2028D|NACA_uc001smc.2_Missense_Mutation_p.E165D|NACA_uc001sma.2_Missense_Mutation_p.E875D|NACA_uc001smb.2_Missense_Mutation_p.E165D|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	165					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						CCTCTTCACTCTCCTCTTGTA	0.403		NA	T	BCL6	NHL								7	41					0	0	0	0
NACA	4666	broad.mit.edu	37	12	57108149	57108149	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57108149C>A	uc001slz.2	-	4	580	c.231G>T	c.(229-231)CGG>CGT	p.R77R	NACA_uc001sly.2_Silent_p.R77R|NACA_uc009zoy.1_Silent_p.R1940R|NACA_uc001smc.2_Silent_p.R77R|NACA_uc001sma.2_Silent_p.R787R|NACA_uc001smb.2_Silent_p.R77R|NACA_uc010squ.1_Intron	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	77	Required for DNA-binding (By similarity).|NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						ATCTTACCTTCCGTGCCTTCT	0.328		NA	T	BCL6	NHL								10	47					4.69e-08	5e-08	1	0
NAB2	4665	broad.mit.edu	37	12	57484986	57484986	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57484986C>A	uc001smz.2	+	2	540	c.162C>A	c.(160-162)CTC>CTA	p.L54L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	54	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GCGCCAACCTCCTTTCCTACT	0.632		NA											25	102					7.88e-20	8.6e-20	1	0
GLI1	2735	broad.mit.edu	37	12	57857788	57857788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57857788C>G	uc001snx.2	+	3	185	c.107C>G	c.(106-108)TCT>TGT	p.S36C	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	36					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAGGACTGTCTGGCCCGCCC	0.552		NA											42	204					0	0	0	0
OS9	10956	broad.mit.edu	37	12	58112070	58112070	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:58112070G>C	uc001spj.2	+	11	1335	c.1276G>C	c.(1276-1278)GAT>CAT	p.D426H	OS9_uc010srx.1_Missense_Mutation_p.D220H|OS9_uc001spk.2_Missense_Mutation_p.D426H|OS9_uc001spl.2_Missense_Mutation_p.D426H|OS9_uc001spm.2_Missense_Mutation_p.D426H|OS9_uc001spn.2_Missense_Mutation_p.D427H|OS9_uc010sry.1_Missense_Mutation_p.D394H|OS9_uc010srz.1_Missense_Mutation_p.D367H	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	426	Asp/Glu-rich (acidic).				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaggatgaagatgaggatga	0.408		NA											6	74					0	0	0	0
BEST3	144453	broad.mit.edu	37	12	70049339	70049339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049339T>A	uc001svg.2	-	10	1582	c.1355A>T	c.(1354-1356)AAA>ATA	p.K452I	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.K239I|BEST3_uc010stm.1_Missense_Mutation_p.K346I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	452	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAAGCAGGATTTCTTCCAGGT	0.592		NA											5	108					0	0	0	0
BEST3	144453	broad.mit.edu	37	12	70049452	70049452	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049452C>G	uc001svg.2	-	10	1469	c.1242G>C	c.(1240-1242)AGG>AGC	p.R414S	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R201S|BEST3_uc010stm.1_Missense_Mutation_p.R308S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	414	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTCTGCCTCCTGTAGCTTC	0.562		NA											25	114					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450679	85450679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85450679C>G	uc001tac.2	+	8	2219	c.2108C>G	c.(2107-2109)TCT>TGT	p.S703C	LRRIQ1_uc001tab.1_Missense_Mutation_p.S703C|LRRIQ1_uc001taa.1_Missense_Mutation_p.S678C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	703										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GAAGTCAACTCTCTTAAATCT	0.373		NA											46	119					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500377	85500377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85500377C>T	uc001tac.2	+	15	3472	c.3361C>T	c.(3361-3363)CAA>TAA	p.Q1121*	LRRIQ1_uc001tab.1_Nonsense_Mutation_p.Q1121*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCCACTTCTTCAAGAAACAAA	0.333		NA											11	61					0	0	0	0
EPYC	1833	broad.mit.edu	37	12	91358091	91358091	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:91358091G>A	uc001tbk.2	-	7	904	c.811C>T	c.(811-813)CTG>TTG	p.L271L		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	271	LRR 5.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TGCATTTCCAGAATGTTGTTA	0.338		NA											5	22					0	0	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163911	93163911	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:93163911G>C	uc001tcj.2	+	12	1310	c.1080G>C	c.(1078-1080)AAG>AAC	p.K360N		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	360					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						GCTTTACCAAGAGTCAGGAAA	0.333		NA											14	37					0	0	0	0
NUP37	79023	broad.mit.edu	37	12	102471251	102471251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:102471251G>A	uc001tjc.2	-	6	636	c.571C>T	c.(571-573)CGG>TGG	p.R191W	NUP37_uc009zub.1_Missense_Mutation_p.R191W	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	191	WD 3.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						TCATAAAACCGGATTGTTCCA	0.368		NA											20	62					0	0	0	0
STAB2	55576	broad.mit.edu	37	12	104129353	104129353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:104129353G>A	uc001tjw.2	+	52	5731	c.5545G>A	c.(5545-5547)GAC>AAC	p.D1849N	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1849	Extracellular (Potential).|FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AGCTGGCAGGGACATCGTGAG	0.507		NA											3	10					0	0	0	0
SVOP	55530	broad.mit.edu	37	12	109306418	109306418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:109306418C>A	uc010sxh.1	-	15	1712	c.1540G>T	c.(1540-1542)GGC>TGC	p.G514C		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	514	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0						AGTCCTCGGCCTTTGGTCTCA	0.607		NA											44	79					6.48e-29	7.09e-29	1	0
CIT	11113	broad.mit.edu	37	12	120241085	120241085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120241085G>A	uc001txi.1	-	10	1273	c.1220C>T	c.(1219-1221)TCA>TTA	p.S407L	CIT_uc001txh.1_5'UTR|CIT_uc001txj.1_Missense_Mutation_p.S407L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	407	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGAGAAGCCTGAGGGGCTCAG	0.493		NA											34	85					0	0	0	0
RPLP0	6175	broad.mit.edu	37	12	120635242	120635242	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120635242G>C	uc001txp.2	-	7	912	c.675C>G	c.(673-675)GTC>GTG	p.V225V	GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.V225V|RPLP0_uc001txr.2_Silent_p.V163V	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	225					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCAGACAGACACTGGCAA	0.488		NA											16	31					0	0	0	0
VPS33A	65082	broad.mit.edu	37	12	122750886	122750886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122750886G>T	uc001ucd.2	-	1	183	c.70C>A	c.(70-72)CGC>AGC	p.R24S	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R24S	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	24					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGAACTCGCGCAGCTCGCGA	0.667		NA											10	41					4.69e-08	5e-08	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122958596	122958596	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122958596C>T	uc001ucn.2	-	14	1703	c.1572G>A	c.(1570-1572)CAG>CAA	p.Q524Q	ZCCHC8_uc001ucl.2_Silent_p.Q135Q|ZCCHC8_uc001ucm.2_Silent_p.Q286Q|ZCCHC8_uc009zxp.2_Silent_p.Q286Q|ZCCHC8_uc009zxq.2_Silent_p.Q286Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	524	Potential.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCGCCTCTGCTGTTCTT	0.572		NA											51	107					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124298073	124298073	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:124298073C>G	uc001uft.3	+	19	3178	c.3153C>G	c.(3151-3153)CTC>CTG	p.L1051L	DNAH10_uc010tav.1_Silent_p.L593L|DNAH10_uc010taw.1_Silent_p.L536L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1051	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTTCAGCTCAGGCATCTGG	0.438		NA											11	36					0	0	0	0
POLE	5426	broad.mit.edu	37	12	133248806	133248806	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133248806C>T	uc001uks.1	-	16	1833	c.1789G>A	c.(1789-1791)GAA>AAA	p.E597K	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E570K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	597					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTACCTCTTCAAAGTTGGTG	0.557		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					12	64					0	0	0	0
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133732691C>T	uc009zzb.2	+	5	1306	c.859C>T	c.(859-861)CAT>TAT	p.H287Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	287	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418		NA											16	39					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25348972	25348972	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:25348972A>C	uc001upr.2	+	3	288	c.247A>C	c.(247-249)AGA>CGA	p.R83R	RNF17_uc010tdd.1_Intron|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.R83R|RNF17_uc001ups.2_Silent_p.R22R|RNF17_uc001upq.1_Silent_p.R83R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	83					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTAAATACTAGACAACGCTA	0.348		NA											16	27					0	0	0	0
USPL1	10208	broad.mit.edu	37	13	31232715	31232715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:31232715C>T	uc001utc.2	+	9	2933	c.2501C>T	c.(2500-2502)TCG>TTG	p.S834L	USPL1_uc001utd.2_Missense_Mutation_p.S505L|USPL1_uc001ute.1_Missense_Mutation_p.S505L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	834					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCCCTCCATCGTCTAATGGC	0.507		NA											17	70					0	0	0	0
STARD13	90627	broad.mit.edu	37	13	33703293	33703293	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:33703293G>T	uc001uuw.2	-	5	1647	c.1521C>A	c.(1519-1521)GTC>GTA	p.V507V	STARD13_uc001uuu.2_Silent_p.V499V|STARD13_uc001uuv.2_Silent_p.V389V|STARD13_uc001uux.2_Silent_p.V472V|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.V492V	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	507					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTTCAGGCAAGACATCTTTGG	0.448		NA											23	90					6.21e-17	6.76e-17	1	0
HTR2A	3356	broad.mit.edu	37	13	47466711	47466711	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:47466711G>A	uc001vbq.2	-	2	561	c.427C>T	c.(427-429)CTG>TTG	p.L143L	HTR2A_uc001vbr.2_Silent_p.L43L|HTR2A_uc010acr.2_Silent_p.L143L	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	143	Extracellular (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTGCTCGGCAGAGGCCACCGG	0.572		NA											20	84					0	0	0	0
MLNR	2862	broad.mit.edu	37	13	49796350	49796350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:49796350C>T	uc010tgj.1	+	2	1076	c.1076C>T	c.(1075-1077)TCA>TTA	p.S359L		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	359	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACCTCATTTCAAAGAAGTAC	0.512		NA											37	105					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208612	58208612	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:58208612G>T	uc001vhq.1	+	1	2824	c.1932G>T	c.(1930-1932)GAG>GAT	p.E644D	PCDH17_uc010aec.1_Missense_Mutation_p.E644D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	644	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGCGGCGAGATCCGCACGC	0.657		NA											43	122					2.13e-23	2.33e-23	1	0
ZIC5	85416	broad.mit.edu	37	13	100622424	100622424	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:100622424G>A	uc001vom.1	-	1	1755	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	502	C2H2-type 2.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGAGCGCGCGAAGACCTTGC	0.502		NA											22	95					0	0	0	0
FLJ10357	55701	broad.mit.edu	37	14	21556189	21556189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21556189C>A	uc001vzp.2	+	22	4479	c.4450C>A	c.(4450-4452)CAA>AAA	p.Q1484K	FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q722K	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1484					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCCCAGCCTGCAACCCCCCCA	0.577		NA											19	79					1.45e-14	1.57e-14	1	0
SUPT16H	11198	broad.mit.edu	37	14	21827748	21827748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21827748C>G	uc001wao.2	-	19	2535	c.2196G>C	c.(2194-2196)AAG>AAC	p.K732N	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	732					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCCGCTTCTTCCCAAACA	0.463		NA											18	49					0	0	0	0
CDH24	64403	broad.mit.edu	37	14	23523752	23523752	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23523752G>C	uc001wil.2	-	5	1007	c.747C>G	c.(745-747)CTC>CTG	p.L249L	CDH24_uc010akf.2_Silent_p.L249L|CDH24_uc001win.3_Silent_p.L249L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	249	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGACATCGCTGAGCGTGACAG	0.607		NA									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0	0
ACIN1	22985	broad.mit.edu	37	14	23548138	23548138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23548138C>G	uc001wit.3	-	7	2400	c.2072G>C	c.(2071-2073)TGT>TCT	p.C691S	ACIN1_uc001wis.3_Missense_Mutation_p.C373S|ACIN1_uc010akg.2_Missense_Mutation_p.C691S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	691					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTGGCTCACAGACCTGCAG	0.542		NA											9	39					0	0	0	0
ACIN1	22985	broad.mit.edu	37	14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23549752C>G	uc001wit.3	-	6	1294	c.966G>C	c.(964-966)GAG>GAC	p.E322D	ACIN1_uc001wis.3_Missense_Mutation_p.E4D|ACIN1_uc010akg.2_Missense_Mutation_p.E322D|ACIN1_uc010tnj.1_Missense_Mutation_p.E282D	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463		NA											30	83					0	0	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884017	24884017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:24884017C>G	uc001wpf.3	+	9	3380	c.3062C>G	c.(3061-3063)TCT>TGT	p.S1021C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1021					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GACCTTGACTCTTCGCTGGCG	0.607		NA											22	35					0	0	0	0
MIA2	117153	broad.mit.edu	37	14	39716595	39716595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:39716595C>T	uc001wux.2	+	4	1011	c.817C>T	c.(817-819)CAA>TAA	p.Q273*	MIA2_uc010amy.1_Nonsense_Mutation_p.Q204*	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	273						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGGTGAGCCTCAAACAGAACA	0.393		NA											9	36					0	0	0	0
WDHD1	11169	broad.mit.edu	37	14	55474026	55474026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:55474026C>T	uc001xbm.1	-	7	650	c.572G>A	c.(571-573)AGA>AAA	p.R191K	WDHD1_uc001xbn.1_Missense_Mutation_p.R68K	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	191	WD 5.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CCAAGCAAGTCTGCAGATTGA	0.254		NA											6	26					0	0	0	0
ESR2	2100	broad.mit.edu	37	14	64746790	64746790	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:64746790G>A	uc001xha.1	-	3	912	c.444C>T	c.(442-444)TTC>TTT	p.F148F	ESR2_uc001xgu.2_Silent_p.F148F|ESR2_uc001xgv.2_Silent_p.F148F|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.F148F|ESR2_uc001xgy.1_Silent_p.F148F|ESR2_uc001xgz.1_Silent_p.F148F|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Silent_p.F148F	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	148	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGACAGCGCAGAAGTGAGCAT	0.478		NA											39	190					0	0	0	0
GALNTL1	57452	broad.mit.edu	37	14	69805378	69805378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:69805378C>G	uc010aqu.1	+	10	1071	c.978C>G	c.(976-978)TTC>TTG	p.F326L	GALNTL1_uc001xla.1_Missense_Mutation_p.F326L|GALNTL1_uc001xlb.1_Missense_Mutation_p.F326L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	326	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AGCTCTCCTTCAGGGTGTGGA	0.592		NA											11	92					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	79432618	79432618	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:79432618G>A	uc001xun.2	+	9	2018	c.1527G>A	c.(1525-1527)CTG>CTA	p.L509L	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L634L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	882	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGCTACCTGAGCCTTGCCA	0.483		NA											17	81					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92469778	92469778	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469778C>T	uc001xzy.2	-	11	5330	c.4542G>A	c.(4540-4542)TTG>TTA	p.L1514L	TRIP11_uc010auf.1_Silent_p.L1250L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1514	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CTTTCTCTTTCAATAGCTGTT	0.378		NA	T	PDGFRB	AML								6	52					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92469811	92469811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469811C>T	uc001xzy.2	-	11	5297	c.4509G>A	c.(4507-4509)ATG>ATA	p.M1503I	TRIP11_uc010auf.1_Missense_Mutation_p.M1239I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1503	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CCTTCTCCTTCATTGAGTGGC	0.413		NA	T	PDGFRB	AML								15	64					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92469841	92469841	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469841C>T	uc001xzy.2	-	11	5267	c.4479G>A	c.(4477-4479)CTG>CTA	p.L1493L	TRIP11_uc010auf.1_Silent_p.L1229L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1493	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CTTTTTCTCGCAGCATCATAG	0.378		NA	T	PDGFRB	AML								20	92					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92470322	92470322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470322C>T	uc001xzy.2	-	11	4786	c.3998G>A	c.(3997-3999)AGT>AAT	p.S1333N	TRIP11_uc010auf.1_Missense_Mutation_p.S1069N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1333	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTCAGACTTACTTGCTCTAAG	0.383		NA	T	PDGFRB	AML								12	59					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92470328	92470328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470328C>G	uc001xzy.2	-	11	4780	c.3992G>C	c.(3991-3993)AGA>ACA	p.R1331T	TRIP11_uc010auf.1_Missense_Mutation_p.R1067T	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1331	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CTTACTTGCTCTAAGACACTC	0.383		NA	T	PDGFRB	AML								9	57					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92470587	92470587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470587C>G	uc001xzy.2	-	11	4521	c.3733G>C	c.(3733-3735)GAG>CAG	p.E1245Q	TRIP11_uc010auf.1_Missense_Mutation_p.E981Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1245	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TGGTGAAGCTCTTCCTGAAGC	0.408		NA	T	PDGFRB	AML								8	39					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92470704	92470704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470704C>T	uc001xzy.2	-	11	4404	c.3616G>A	c.(3616-3618)GAG>AAG	p.E1206K	TRIP11_uc010auf.1_Missense_Mutation_p.E942K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1206	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TGTAGAAGCTCCTCAAATTGA	0.398		NA	T	PDGFRB	AML								16	64					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471001	92471001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471001C>T	uc001xzy.2	-	11	4107	c.3319G>A	c.(3319-3321)GAG>AAG	p.E1107K	TRIP11_uc010auf.1_Missense_Mutation_p.E843K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1107	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CTAGTCTTCTCATTCAAAACA	0.363		NA	T	PDGFRB	AML								13	35					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471131	92471131	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471131C>T	uc001xzy.2	-	11	3977	c.3189G>A	c.(3187-3189)CAG>CAA	p.Q1063Q	TRIP11_uc010auf.1_Silent_p.Q799Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1063	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CCAAATCTTTCTGCTGAATAA	0.343		NA	T	PDGFRB	AML								14	42					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471181	92471181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471181C>G	uc001xzy.2	-	11	3927	c.3139G>C	c.(3139-3141)GAT>CAT	p.D1047H	TRIP11_uc010auf.1_Missense_Mutation_p.D783H	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1047	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GACAACTGATCAATCTGTTTA	0.328		NA	T	PDGFRB	AML								9	41					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471470	92471470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471470C>T	uc001xzy.2	-	11	3638	c.2850G>A	c.(2848-2850)ATG>ATA	p.M950I	TRIP11_uc010auf.1_Missense_Mutation_p.M686I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	950	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GTGTGGCGTTCATTTGCTCAT	0.368		NA	T	PDGFRB	AML								15	113					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471478	92471478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471478C>T	uc001xzy.2	-	11	3630	c.2842G>A	c.(2842-2844)GAG>AAG	p.E948K	TRIP11_uc010auf.1_Missense_Mutation_p.E684K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	948	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTCATTTGCTCATGCTGGTAT	0.363		NA	T	PDGFRB	AML								15	106					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471517	92471517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471517C>G	uc001xzy.2	-	11	3591	c.2803G>C	c.(2803-2805)GAG>CAG	p.E935Q	TRIP11_uc010auf.1_Missense_Mutation_p.E671Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	935	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTCTTTTGCTCTTGTAAAGAC	0.368		NA	T	PDGFRB	AML								15	107					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471562	92471562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471562C>T	uc001xzy.2	-	11	3546	c.2758G>A	c.(2758-2760)GAA>AAA	p.E920K	TRIP11_uc010auf.1_Missense_Mutation_p.E656K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	920	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTTTGATCTTCAATTATCTTT	0.373		NA	T	PDGFRB	AML								24	86					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92471643	92471643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471643C>T	uc001xzy.2	-	11	3465	c.2677G>A	c.(2677-2679)GAA>AAA	p.E893K	TRIP11_uc010auf.1_Missense_Mutation_p.E629K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	893	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GATGCTAGTTCAGTAACACTA	0.403		NA	T	PDGFRB	AML								18	89					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92488028	92488028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92488028G>A	uc001xzy.2	-	4	1248	c.460C>T	c.(460-462)CCT>TCT	p.P154S		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	154	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		AAAGCTGAAGGATGATGACTA	0.433		NA	T	PDGFRB	AML								11	44					0	0	0	0
RIN3	79890	broad.mit.edu	37	14	93022127	93022127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:93022127G>C	uc001yap.2	+	2	228	c.76G>C	c.(76-78)GAG>CAG	p.E26Q	RIN3_uc010auk.2_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	26	Poly-Glu.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				AGGAGAGGAAGAGGAAGAGGA	0.517		NA											14	22					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94041424	94041424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:94041424C>G	uc001ybv.1	+	14	1643	c.1560C>G	c.(1558-1560)ATC>ATG	p.I520M	KIAA1409_uc001ybs.1_Missense_Mutation_p.I520M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	697						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)		AGTTAGATATCATGGTTCCAC	0.328		NA											9	20					0	0	0	0
YY1	7528	broad.mit.edu	37	14	100743853	100743853	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:100743853C>T	uc001ygy.1	+	5	1641	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	uc001ygz.1_5'Flank	NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	387	C2H2-type 4.|Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				TGTGCCCCTTCGATGGTTGTA	0.458		NA											18	50					0	0	0	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:103174893G>A	uc001ymb.2	+	6	743	c.743G>A	c.(742-744)CGG>CAG	p.R248Q		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.|Potential.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						CGCCATGCCCGGAAACAAAAA	0.463		NA											4	144					0	0	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104245125	104245125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:104245125C>G	uc001yof.1	-	4	594	c.311G>C	c.(310-312)AGA>ACA	p.R104T	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	104					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TATTACATTTCTCTGAGTTCG	0.308		NA											17	42					0	0	0	0
BTBD6	90135	broad.mit.edu	37	14	105716079	105716079	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716079C>T	uc010tyq.1	+	5	636	c.528C>T	c.(526-528)GTC>GTT	p.V176V	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	176						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AAGCCTGTGTCAACTTTCTGG	0.567		NA											6	62					0	0	0	0
BTBD6	90135	broad.mit.edu	37	14	105716585	105716585	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716585C>A	uc010tyq.1	+	5	1142	c.1034C>A	c.(1033-1035)GCC>GAC	p.A345D	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	345						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTCTTCTGCCTACCGCAGC	0.622		NA											18	57					3.53e-06	3.71e-06	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22850972	22850972	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22850972C>T	uc001yur.3	+	11	1364	c.1234C>T	c.(1234-1236)CTG>TTG	p.L412L	TUBGCP5_uc001yuq.2_Silent_p.L412L|TUBGCP5_uc010axz.1_5'UTR	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	412					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCTCAAGGTTCTGCACAAAGT	0.448		NA											21	43					0	0	0	0
CYFIP1	23191	broad.mit.edu	37	15	22935917	22935917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22935917G>A	uc001yus.2	+	9	957	c.853G>A	c.(853-855)GAT>AAT	p.D285N	CYFIP1_uc001yut.2_Missense_Mutation_p.D285N|CYFIP1_uc010aya.1_Missense_Mutation_p.D313N	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	285					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTATAAGTTGGATGCCAAGAA	0.368		NA											5	26					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28463722	28463722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:28463722G>A	uc001zbj.2	-	38	6047	c.5941C>T	c.(5941-5943)CAT>TAT	p.H1981Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1981					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTCAGCATGAACTCCAGCA	0.458		NA											37	71					0	0	0	0
TRPM1	4308	broad.mit.edu	37	15	31338418	31338418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:31338418G>C	uc001zfm.2	-	15	1845	c.1717C>G	c.(1717-1719)CTG>GTG	p.L573V	TRPM1_uc010azy.2_Missense_Mutation_p.L480V|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	573	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATTCCCAGAAGTTTAAGA	0.313		NA											11	25					0	0	0	0
C15orf57	90416	broad.mit.edu	37	15	40849428	40849428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:40849428C>G	uc001zmc.1	-	3	478	c.388G>C	c.(388-390)GAT>CAT	p.D130H	uc001zlx.1_RNA|C15orf57_uc001zly.2_Missense_Mutation_p.D128H|C15orf57_uc001zma.1_Missense_Mutation_p.D139H|C15orf57_uc001zmb.1_Missense_Mutation_p.D130H|C15orf57_uc010bbr.2_Missense_Mutation_p.D128H	NM_001080792	NP_001074261	Q9BV29	CO057_HUMAN	coiled-coil domain containing 32 isoform a	130										ovary(1)	1						TCATCAGAATCAAGTCCATCC	0.438		NA											12	26					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:43815940G>A	uc001zrt.2	+	4	2736	c.2269G>A	c.(2269-2271)GAT>AAT	p.D757N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	757						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATCCATGATGAGCCGGA	0.562		NA											11	16					0	0	0	0
SLTM	79811	broad.mit.edu	37	15	59181735	59181735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:59181735C>T	uc002afp.2	-	16	2186	c.2098G>A	c.(2098-2100)GAA>AAA	p.E700K	SLTM_uc002afn.2_Missense_Mutation_p.E242K|SLTM_uc002afo.2_Missense_Mutation_p.E682K|SLTM_uc002afq.2_Missense_Mutation_p.E269K|SLTM_uc010bgd.2_Missense_Mutation_p.E269K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	700	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GCAATCCGTTCAGCTTCCTTA	0.408		NA											14	23					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62228879	62228879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:62228879G>A	uc002agz.2	-	48	5746	c.5672C>T	c.(5671-5673)TCA>TTA	p.S1891L	VPS13C_uc002aha.2_Missense_Mutation_p.S1848L|VPS13C_uc002ahb.1_Missense_Mutation_p.S1891L|VPS13C_uc002ahc.1_Missense_Mutation_p.S1848L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1891					protein localization					ovary(2)	2						GCTTGGTTGTGAGGAAGCTTC	0.373		NA											8	18					0	0	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152104	65152104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:65152104C>G	uc002anv.2	+	4	425	c.291C>G	c.(289-291)ATC>ATG	p.I97M	PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.I47M	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	97	PH.									ovary(1)|lung(1)	2						TCAGCGACATCAAATTCCAGG	0.488		NA											37	157					0	0	0	0
UACA	55075	broad.mit.edu	37	15	70959538	70959538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:70959538G>C	uc002asr.2	-	16	3589	c.3485C>G	c.(3484-3486)TCT>TGT	p.S1162C	UACA_uc010uke.1_Missense_Mutation_p.S1053C|UACA_uc002asq.2_Missense_Mutation_p.S1149C|UACA_uc010bin.1_Missense_Mutation_p.S1137C	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1162	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						GGGTACAGAAGAGTTCTTTTG	0.398		NA											64	134					0	0	0	0
GRAMD2	196996	broad.mit.edu	37	15	72460095	72460095	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72460095G>T	uc002atq.2	-	5	378	c.354C>A	c.(352-354)CTC>CTA	p.L118L	GRAMD2_uc010bis.2_Silent_p.L118L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	118	GRAM.					integral to membrane					0						CCTTGCCAAAGAGGCTGGCAT	0.597		NA											16	63					6.94e-10	7.45e-10	1	0
CELF6	60677	broad.mit.edu	37	15	72582528	72582528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72582528G>A	uc002auh.2	-	4	773	c.463C>T	c.(463-465)CAG>TAG	p.Q155*	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Nonsense_Mutation_p.Q42*|CELF6_uc010ukl.1_Nonsense_Mutation_p.Q40*|CELF6_uc010ukm.1_Nonsense_Mutation_p.Q155*|CELF6_uc002aui.2_Nonsense_Mutation_p.Q261*|CELF6_uc002auj.2_Nonsense_Mutation_p.Q42*	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	155	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						CCAAAGGGCTGGAACAGGCGT	0.617		NA											12	27					0	0	0	0
HEXA	3073	broad.mit.edu	37	15	72643480	72643480	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72643480C>A	uc002aun.3	-	6	873	c.666G>T	c.(664-666)ATG>ATT	p.M222I	uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.M233I|HEXA_uc002auo.3_Missense_Mutation_p.M85I|HEXA_uc010bix.2_Missense_Mutation_p.M222I|HEXA_uc010biy.2_Missense_Mutation_p.M85I|HEXA_uc010uko.1_Missense_Mutation_p.M48I|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	222					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						ATACCTTTCTCATGAGCTCTG	0.468		NA											10	38					7.04e-09	7.52e-09	1	0
BBS4	585	broad.mit.edu	37	15	73002044	73002044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:73002044C>T	uc002avb.2	+	3	123	c.80C>T	c.(79-81)CCA>CTA	p.P27L	BBS4_uc010ukv.1_Missense_Mutation_p.P15L|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.P35L	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	27	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						TGCCTAGCTCCAGAGTTTCCT	0.358		NA							Bardet-Biedl_syndrome				25	90					0	0	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894511	78894511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:78894511G>T	uc002bec.2	-	5	659	c.473C>A	c.(472-474)TCC>TAC	p.S158Y	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.S158Y	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	158	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GATTTTACAGGAGCTCTTAAA	0.493		NA											6	93					3.6e-05	3.76e-05	1	0
RASGRF1	5923	broad.mit.edu	37	15	79296198	79296198	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:79296198C>T	uc002beq.2	-	16	2818	c.2443G>A	c.(2443-2445)GAG>AAG	p.E815K	RASGRF1_uc002bep.2_Missense_Mutation_p.E799K|RASGRF1_uc010blm.1_Missense_Mutation_p.E724K|RASGRF1_uc002ber.3_Missense_Mutation_p.E799K|RASGRF1_uc010unh.1_Missense_Mutation_p.E210K|RASGRF1_uc002beo.2_Missense_Mutation_p.E31K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	817					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GTATCGCCCTCATCTGGAATC	0.607		NA											14	38					0	0	0	0
HOMER2	9455	broad.mit.edu	37	15	83518566	83518566	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83518566C>T	uc002bjg.2	-	9	1152	c.966G>A	c.(964-966)CTG>CTA	p.L322L	HOMER2_uc002bjh.2_Silent_p.L311L|HOMER2_uc002bjj.2_Silent_p.L256L|HOMER2_uc002bji.2_Silent_p.L267L	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	322	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						ACTCCACCTTCAGGTGGCGCT	0.547		NA									OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	55					0	0	0	0
BTBD1	53339	broad.mit.edu	37	15	83687528	83687528	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83687528G>A	uc002bjn.2	-	7	1424	c.1221C>T	c.(1219-1221)TTC>TTT	p.F407F	BTBD1_uc002bjo.2_Missense_Mutation_p.S378L	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	407						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		ACATGACCCTGAATGTGTTAG	0.418		NA											13	48					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85370749	85370749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85370749G>C	uc002ble.2	+	3	990	c.823G>C	c.(823-825)GAG>CAG	p.E275Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	275					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGCTCACAGAGGAGACCCA	0.562		NA											6	46					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85405874	85405874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85405874G>A	uc002ble.2	+	10	4911	c.4744G>A	c.(4744-4746)GAG>AAG	p.E1582K	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1582					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTTGGAGAAGAGATTGAGAT	0.572		NA											19	58					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85407691	85407691	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85407691G>A	uc002ble.2	+	12	5291	c.5124G>A	c.(5122-5124)CTG>CTA	p.L1708L	ALPK3_uc010upc.1_Silent_p.L9L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1708	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTGTATCTGATCTACCGGC	0.527		NA											35	59					0	0	0	0
AKAP13	11214	broad.mit.edu	37	15	86118486	86118486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:86118486C>G	uc002blv.1	+	6	957	c.787C>G	c.(787-789)CAT>GAT	p.H263D	AKAP13_uc002blt.1_Missense_Mutation_p.H263D|AKAP13_uc002blu.1_Missense_Mutation_p.H263D	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	263					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TGATTCACATCATGAACACCC	0.393		NA											33	91					0	0	0	0
C15orf42	90381	broad.mit.edu	37	15	90144539	90144539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:90144539C>G	uc002boe.2	+	10	2164	c.2164C>G	c.(2164-2166)CAG>GAG	p.Q722E		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	722					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGCCAGCTTCAGGTATTTCT	0.373		NA											6	34					0	0	0	0
CRTC3	64784	broad.mit.edu	37	15	91161162	91161162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91161162C>T	uc002bpp.2	+	8	767	c.661C>T	c.(661-663)CCG>TCG	p.P221S	CRTC3_uc002bpo.2_Missense_Mutation_p.P221S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	221					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTAAATGTTCCGAAGCCACT	0.433		NA	T	MAML2	salivary gland mucoepidermoid								12	47					0	0	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448544	91448544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91448544G>T	uc010bnz.2	+	3	311	c.196G>T	c.(196-198)GAG>TAG	p.E66*	MAN2A2_uc010boa.2_Nonsense_Mutation_p.E108*|MAN2A2_uc002bqc.2_Nonsense_Mutation_p.E66*|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66	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)			GGAGAACCATGAGATTATCAG	0.547		NA											25	83					1.55e-16	1.69e-16	1	0
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:99459287G>C	uc002bul.2	+	9	1973	c.1923G>C	c.(1921-1923)CTG>CTC	p.L641L	IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	641	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGGCAACCTGAGTTACTACA	0.557		NA											33	105					0	0	0	0
LASS3	204219	broad.mit.edu	37	15	100943007	100943007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:100943007C>G	uc002bvz.2	-	13	1565	c.1063G>C	c.(1063-1065)GAG>CAG	p.E355Q	LASS3_uc002bwa.2_Missense_Mutation_p.E366Q|LASS3_uc002bwb.2_Missense_Mutation_p.E355Q	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	355	Poly-Glu.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			TTGGTAGcctcttcttcttcc	0.408		NA											7	23					0	0	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:1797130C>T	uc002cmk.2	+	6	965	c.845C>T	c.(844-846)TCG>TTG	p.S282L	MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.S282L|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.S283L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	282					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						TCCGTGCCCTCGGCCGCCGTC	0.672		NA											30	54					0	0	0	0
C16orf89	146556	broad.mit.edu	37	16	5112511	5112511	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:5112511G>A	uc010bud.2	-	2	475	c.387C>T	c.(385-387)CGC>CGT	p.R129R	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Silent_p.R129R	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	91						extracellular region				ovary(1)|skin(1)	2						GCATCCCCACGCGCAGGCTCA	0.572		NA											22	59					0	0	0	0
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8873373G>A	uc002czc.3	+	15	1473	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q	ABAT_uc002czd.3_Missense_Mutation_p.R436Q|ABAT_uc010buh.2_Missense_Mutation_p.R378Q|ABAT_uc010bui.2_Missense_Mutation_p.R436Q	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532		NA											8	51					0	0	0	0
ABAT	18	broad.mit.edu	37	16	8875251	8875251	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8875251C>A	uc002czc.3	+	16	1633	c.1467C>A	c.(1465-1467)CTC>CTA	p.L489L	ABAT_uc002czd.3_Silent_p.L489L|ABAT_uc010buh.2_Silent_p.L431L|ABAT_uc010bui.2_Silent_p.L489L	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	489					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTCCTCAATATTTTCA	0.478		NA											20	53					5.04e-11	5.41e-11	1	0
SMG1	23049	broad.mit.edu	37	16	18865140	18865140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:18865140G>C	uc002dfm.2	-	31	4896	c.4533C>G	c.(4531-4533)TTC>TTG	p.F1511L	SMG1_uc010bwb.2_Missense_Mutation_p.F1371L|SMG1_uc010bwa.2_Missense_Mutation_p.F242L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1511	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CAGACTTGCAGAAAGATATGG	0.403		NA											11	24					0	0	0	0
C16orf62	57020	broad.mit.edu	37	16	19659193	19659193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:19659193C>T	uc002dgn.1	+	24	2029	c.2017C>T	c.(2017-2019)CAG>TAG	p.Q673*	C16orf62_uc002dgo.1_Nonsense_Mutation_p.Q606*|C16orf62_uc002dgp.1_Nonsense_Mutation_p.Q422*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	673						integral to membrane				ovary(1)	1						TGTTCTTGTGCAGTTGATTCA	0.323		NA											24	76					0	0	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27375021C>T	uc002don.2	+	11	2590	c.2348C>T	c.(2347-2349)TCG>TTG	p.S783L	IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	783	Cytoplasmic (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						CTGGCACCCTCGGGCATCTCA	0.612		NA											19	57					0	0	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789012	27789012	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27789012G>C	uc002dow.2	+	26	4657	c.4633G>C	c.(4633-4635)GAG>CAG	p.E1545Q	KIAA0556_uc010vco.1_Missense_Mutation_p.E47Q	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1545										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GCCCACATGTGAGCCCACCGT	0.647		NA											26	93					0	0	0	0
LAT	27040	broad.mit.edu	37	16	28997455	28997455	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:28997455G>C	uc002dsd.2	+	4	516	c.164_splice	c.e4-1	p.H55_splice	uc010vct.1_Intron|LAT_uc010vdj.1_Splice_Site_p.H91_splice|LAT_uc002dsb.2_Splice_Site_p.H55_splice|LAT_uc002dsc.2_Splice_Site_p.H55_splice|LAT_uc010vdk.1_Splice_Site_p.H55_splice|LAT_uc010vdl.1_Splice_Site_p.H55_splice	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				TGTGTCCTCAGACACGGTTGC	0.612		NA											36	83					0	0	0	0
TAOK2	9344	broad.mit.edu	37	16	29994478	29994478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994478C>G	uc002dva.1	+	12	1868	c.1085C>G	c.(1084-1086)TCC>TGC	p.S362C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S362C|TAOK2_uc002dvc.1_Missense_Mutation_p.S362C|TAOK2_uc010bzm.1_Missense_Mutation_p.S369C|TAOK2_uc002dvd.1_Missense_Mutation_p.S189C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	362	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ATCAGCGCCTCCAGCCAGAGC	0.498		NA											42	96					0	0	0	0
TAOK2	9344	broad.mit.edu	37	16	29994909	29994909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994909C>T	uc002dva.1	+	13	2129	c.1346C>T	c.(1345-1347)TCC>TTC	p.S449F	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S449F|TAOK2_uc002dvc.1_Missense_Mutation_p.S449F|TAOK2_uc010bzm.1_Missense_Mutation_p.S456F|TAOK2_uc002dvd.1_Missense_Mutation_p.S276F	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	449					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GCTCCCACTTCCACCACCTCT	0.622		NA											9	466					0	0	0	0
GDPD3	79153	broad.mit.edu	37	16	30116264	30116264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30116264C>T	uc002dwp.2	-	10	965	c.886G>A	c.(886-888)GTC>ATC	p.V296I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dwo.1_RNA|GDPD3_uc002dwq.2_Missense_Mutation_p.V234I	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	296	GDPD.|Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						TCCGTTATGACGCCAGTGGCT	0.567		NA											15	43					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30749759	30749759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30749759G>C	uc002dze.1	+	34	8783	c.8398G>C	c.(8398-8400)GAA>CAA	p.E2800Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2595Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2800	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GTCAGGGCCAGAATCCTCCCC	0.652		NA											4	76					0	0	0	0
BCKDK	10295	broad.mit.edu	37	16	31121565	31121565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121565G>A	uc002eaw.3	+	6	779	c.463G>A	c.(463-465)GTG>ATG	p.V155M	BCKDK_uc002eav.3_Missense_Mutation_p.V155M|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.V155M	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	155					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						CTGCCAGCTGGTGCGACAGCT	0.607		NA											18	66					0	0	0	0
BCKDK	10295	broad.mit.edu	37	16	31121725	31121725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121725G>A	uc002eaw.3	+	7	863	c.547G>A	c.(547-549)GAA>AAA	p.E183K	BCKDK_uc002eav.3_Missense_Mutation_p.E183K|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.E183K	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	183	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TTTACAGGATGAAAAGCTCGT	0.592		NA											20	59					0	0	0	0
PYCARD	29108	broad.mit.edu	37	16	31213943	31213943	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31213943G>A	uc010cak.2	-	1	309	c.69C>T	c.(67-69)TTC>TTT	p.F23F	PYCARD_uc002ebm.2_Silent_p.F23F	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	23	DAPIN.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						GCTTCAGCTTGAACTTCTTGA	0.706		NA											8	42					0	0	0	0
KATNB1	10300	broad.mit.edu	37	16	57786709	57786709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:57786709G>C	uc002eml.1	+	10	1098	c.724G>C	c.(724-726)GAC>CAC	p.D242H		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	242	WD 6.|Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CTTCAACCCAGACGGCTGCTG	0.657		NA											4	28					0	0	0	0
ELMO3	79767	broad.mit.edu	37	16	67237075	67237075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:67237075G>C	uc002esa.2	+	17	1931	c.1888G>C	c.(1888-1890)GAC>CAC	p.D630H	ELMO3_uc002esb.2_Missense_Mutation_p.D613H|ELMO3_uc002esc.2_Missense_Mutation_p.D464H|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	577	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGTACGGAGACATGGAGGA	0.647		NA											10	26					0	0	0	0
TMCO7	79613	broad.mit.edu	37	16	68961608	68961608	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:68961608C>A	uc002ewi.3	+	13	2277	c.2265C>A	c.(2263-2265)GCC>GCA	p.A755A		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	755						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAGCCTTTGCCACTGAGGCCG	0.502		NA											14	140					1.05e-09	1.13e-09	1	0
ZNF19	7567	broad.mit.edu	37	16	71512138	71512138	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:71512138G>A	uc010cgc.1	-	5	773	c.267C>T	c.(265-267)GTC>GTT	p.V89V	ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Silent_p.V77V|ZNF19_uc002fal.1_Silent_p.V77V|ZNF19_uc002fam.1_Silent_p.V89V	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	89						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TACCTTTACAGACGTTTTTGG	0.448		NA											8	34					0	0	0	0
ATMIN	23300	broad.mit.edu	37	16	81078338	81078338	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81078338C>G	uc002ffz.1	+	4	2253	c.2235C>G	c.(2233-2235)GTC>GTG	p.V745V	ATMIN_uc002fga.2_Silent_p.V587V|ATMIN_uc010vnn.1_Silent_p.V516V|ATMIN_uc002fgb.1_Silent_p.V587V	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	745					response to DNA damage stimulus	nucleus	zinc ion binding				0						CTGAAGGAGTCTCCACTGCTA	0.453		NA											10	97					0	0	0	0
GAN	8139	broad.mit.edu	37	16	81388253	81388253	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81388253C>G	uc002fgo.2	+	3	674	c.526C>G	c.(526-528)CAA>GAA	p.Q176E		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	176	BACK.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GCTGAGTCCTCAAAAGCTTAA	0.408		NA											21	50					0	0	0	0
CDH13	1012	broad.mit.edu	37	16	83636065	83636065	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:83636065G>C	uc002fgx.2	+	8	1087	c.967G>C	c.(967-969)GAA>CAA	p.E323Q	CDH13_uc010vns.1_Missense_Mutation_p.E370Q|CDH13_uc010vnt.1_Missense_Mutation_p.E69Q|CDH13_uc010vnu.1_Missense_Mutation_p.E284Q	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	323	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTAGACTCTGGAAAATCCCAA	0.463		NA											67	241					0	0	0	0
FANCA	2175	broad.mit.edu	37	16	89858379	89858379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89858379G>C	uc002fou.1	-	13	1223	c.1181C>G	c.(1180-1182)TCT>TGT	p.S394C	FANCA_uc010vpn.1_Missense_Mutation_p.S394C	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	394					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACCAGGGCAGACACAAAGGA	0.552		NA	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				15	48					0	0	0	0
SPIRE2	84501	broad.mit.edu	37	16	89930015	89930015	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89930015G>T	uc002foz.1	+	11	1759	c.1707G>T	c.(1705-1707)GGG>GGT	p.G569G	SPIRE2_uc010ciw.1_Silent_p.G569G|SPIRE2_uc002fpa.1_Silent_p.G521G|SPIRE2_uc010cix.1_Silent_p.G436G	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	569					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGGGAAGGTGAGGC	0.587		NA											12	60					3.07e-06	3.24e-06	1	0
ZZEF1	23140	broad.mit.edu	37	17	4009037	4009037	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:4009037G>C	uc002fxe.2	-	7	1408	c.1344C>G	c.(1342-1344)CTC>CTG	p.L448L	ZZEF1_uc002fxk.1_Silent_p.L448L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	448							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATTAGGGGAGAGGAAAGTTG	0.453		NA											15	40					0	0	0	0
XAF1	54739	broad.mit.edu	37	17	6665494	6665494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:6665494G>A	uc002gdn.2	+	5	684	c.442G>A	c.(442-444)GAA>AAA	p.E148K	XAF1_uc002gdm.1_Missense_Mutation_p.E88K|XAF1_uc002gdo.2_Missense_Mutation_p.E129K|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	148					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						TTCAGCTCCTGAAAGGGAAAT	0.408		NA											12	19					0	0	0	0
PHF23	79142	broad.mit.edu	37	17	7139717	7139717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7139717G>A	uc002gfa.2	-	4	756	c.529C>T	c.(529-531)CCT>TCT	p.P177S	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.P110S|PHF23_uc010cma.2_Missense_Mutation_p.P47S	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	177							zinc ion binding				0						TTTCGAGGAGGATGGGAGAGG	0.632		NA											21	49					0	0	0	0
KDM6B	23135	broad.mit.edu	37	17	7752328	7752328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7752328C>T	uc002giw.1	+	11	3098	c.2722C>T	c.(2722-2724)CGC>TGC	p.R908C	KDM6B_uc002gix.2_Missense_Mutation_p.R210C	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	908					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GCCCCCTGCTCGCTCTGAGTC	0.711		NA											6	11					0	0	0	0
RICH2	9912	broad.mit.edu	37	17	12823101	12823101	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:12823101G>A	uc002gnr.3	+	6	744	c.417G>A	c.(415-417)AGG>AGA	p.R139R	RICH2_uc010vvk.1_Silent_p.R139R|RICH2_uc010vvl.1_Silent_p.R139R|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Silent_p.R139R|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	139	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AAAAGCAGAGGAAACACTTAG	0.368		NA											3	12					0	0	0	0
RASD1	51655	broad.mit.edu	37	17	17398763	17398763	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17398763G>A	uc002gri.2	-	2	734	c.522C>T	c.(520-522)TTC>TTT	p.F174F		NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1 precursor	174					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity				0						CCGAGATCTCGAAGTAGGCGC	0.647		NA											5	9					0	0	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921887	17921887	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17921887G>C	uc002gse.1	-	8	999	c.846C>G	c.(844-846)GTC>GTG	p.V282V	ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	282					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					GCTTGTGCTTGACTGTGGTGC	0.642		NA											25	74					0	0	0	0
UNC119	9094	broad.mit.edu	37	17	26879514	26879514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:26879514G>A	uc002hbk.2	-	1	133	c.62C>T	c.(61-63)TCG>TTG	p.S21L	UNC119_uc002hbm.2_Missense_Mutation_p.S21L	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	21					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)					GCTCTGGCCCGAGGGCCCCGG	0.761		NA											3	9					0	0	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001375	27001375	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27001375G>C	uc002hby.2	+	3	274	c.184G>C	c.(184-186)GAT>CAT	p.D62H	SUPT6H_uc010crt.2_Missense_Mutation_p.D62H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	62	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CAATGACGATGATGATGAAGA	0.473		NA											10	27					0	0	0	0
PHF12	57649	broad.mit.edu	37	17	27244465	27244465	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27244465C>G	uc002hdg.1	-	7	1502	c.972G>C	c.(970-972)CTG>CTC	p.L324L	PHF12_uc010wbb.1_Silent_p.L306L|PHF12_uc002hdi.1_Silent_p.L320L|PHF12_uc002hdj.1_Silent_p.L324L|PHF12_uc010crw.1_Silent_p.L27L|PHF12_uc002hdh.1_Silent_p.L107L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	324	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTTCTGGTTCAGCTAGGGAC	0.493		NA											11	47					0	0	0	0
CPD	1362	broad.mit.edu	37	17	28789469	28789469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:28789469C>G	uc002hfb.1	+	20	3913	c.3898C>G	c.(3898-3900)CTT>GTT	p.L1300V	CPD_uc010wbo.1_Missense_Mutation_p.L1053V|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1300	Helical; (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCCAAGGGAGCTTGTGGTAAC	0.373		NA											20	49					0	0	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376383	30376383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:30376383G>C	uc002hgu.2	+	10	2657	c.2646G>C	c.(2644-2646)CAG>CAC	p.Q882H	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q800H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q831H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	882	Potential.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATGGAACAGAATGAACAGA	0.433		NA											4	9					0	0	0	0
CCL2	6347	broad.mit.edu	37	17	32583786	32583786	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:32583786G>C	uc002hhy.2	+	3	313	c.240G>C	c.(238-240)CAG>CAC	p.Q80H		NM_002982	NP_002973	P13500	CCL2_HUMAN	small inducible cytokine A2 precursor	80				Missing: 90% reduction in activity.|Missing: 83% reduction in activity.	angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			pancreas(1)	1	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	ACCCCAAGCAGAAGTGGGTTC	0.488		NA											20	38					0	0	0	0
GPR179	440435	broad.mit.edu	37	17	36499096	36499096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:36499096C>T	uc002hpz.2	-	1	598	c.577G>A	c.(577-579)GAC>AAC	p.D193N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	193	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGGGTGTCCAGGTCCCCA	0.637		NA											18	77					0	0	0	0
PGAP3	93210	broad.mit.edu	37	17	37842184	37842184	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:37842184G>A	uc002hsj.2	-	2	313	c.270C>T	c.(268-270)TTC>TTT	p.F90F	ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Silent_p.F90F|PGAP3_uc002hsk.2_Silent_p.F90F|PGAP3_uc010cvz.2_Silent_p.F90F|ERBB2_uc002hsl.2_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	90	Lumenal (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						CCTTGCCATGGAACTGAGGCA	0.537		NA											6	32					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40936541	40936541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:40936541G>C	uc002ibj.2	+	4	1135	c.1114G>C	c.(1114-1116)GAG>CAG	p.E372Q	WNK4_uc010wgx.1_Silent_p.L65L|WNK4_uc002ibk.1_Missense_Mutation_p.E144Q|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	372	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCACCTCTGAGTACCCGTA	0.597		NA											6	36					0	0	0	0
HOXB7	3217	broad.mit.edu	37	17	46685395	46685395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:46685395C>A	uc002inv.2	-	2	566	c.463G>T	c.(463-465)GAA>TAA	p.E155*		NM_004502	NP_004493	P09629	HXB7_HUMAN	homeobox B7	155	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TAGTGAAATTCTTTCTCCAGC	0.542		NA											29	90					7.26e-15	7.85e-15	1	0
CACNA1G	8913	broad.mit.edu	37	17	48683370	48683370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48683370G>C	uc002irk.1	+	23	4780	c.4408G>C	c.(4408-4410)GAC>CAC	p.D1470H	CACNA1G_uc002iri.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irj.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irl.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irm.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irn.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iro.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irp.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irq.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irr.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irs.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irt.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irv.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irw.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iru.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irx.1_Missense_Mutation_p.D1383H|CACNA1G_uc002iry.1_Missense_Mutation_p.D1383H|CACNA1G_uc002irz.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isa.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isb.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isc.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isd.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ise.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isf.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isg.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ish.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isi.1_Missense_Mutation_p.D1360H|CACNA1G_uc002isj.2_Missense_Mutation_p.D194H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1470	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTACAACTTTGACAACCTTGG	0.587		NA											21	61					0	0	0	0
CACNA1G	8913	broad.mit.edu	37	17	48684289	48684289	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48684289C>G	uc002irk.1	+	24	4823	c.4451C>G	c.(4450-4452)TCC>TGC	p.S1484C	CACNA1G_uc002irj.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irl.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irm.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irn.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iro.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irp.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irq.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irr.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irs.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irt.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irv.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irw.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iru.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irx.1_Missense_Mutation_p.S1397C|CACNA1G_uc002iry.1_Missense_Mutation_p.S1397C|CACNA1G_uc002irz.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isa.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isb.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isc.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isd.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ise.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isf.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isg.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ish.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isi.1_Missense_Mutation_p.S1374C|CACNA1G_uc002isj.2_Missense_Mutation_p.S208C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1484	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTGGCCTCCAAGGATGGT	0.577		NA											16	41					0	0	0	0
OR4D2	124538	broad.mit.edu	37	17	56247319	56247319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:56247319C>G	uc010wnp.1	+	1	303	c.303C>G	c.(301-303)ATC>ATG	p.I101M		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TGGGTCAGATCTTCTTCTTCC	0.527		NA											10	121					0	0	0	0
CACNG4	27092	broad.mit.edu	37	17	65026887	65026887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:65026887G>A	uc002jft.1	+	4	766	c.751G>A	c.(751-753)GAG>AAG	p.E251K		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	251	Cytoplasmic (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAGGTCCACCGAGGCCTCGCC	0.632		NA											24	58					0	0	0	0
FAM20A	54757	broad.mit.edu	37	17	66548055	66548055	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:66548055C>T	uc002jho.2	-	4	966	c.678G>A	c.(676-678)CTG>CTA	p.L226L	FAM20A_uc010wqp.1_Silent_p.L88L|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	226						extracellular region					0	Breast(10;1.64e-13)					CCGAGAACCTCAGCACCAGCT	0.552		NA											3	3					0	0	0	0
EVPL	2125	broad.mit.edu	37	17	74018542	74018542	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:74018542C>T	uc002jqi.2	-	5	786	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	EVPL_uc010wss.1_Silent_p.Q186Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	186	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CGATCTCCTTCTGCAGGATGT	0.672		NA											3	44					0	0	0	0
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455098G>A	uc010dhp.1	-	6	1068	c.846C>T	c.(844-846)ATC>ATT	p.I282I	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582		NA											21	61					0	0	0	0
DNAH17	8632	broad.mit.edu	37	17	76455962	76455962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455962G>A	uc010dhp.1	-	5	779	c.557C>T	c.(556-558)GCG>GTG	p.A186V	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGGCCGCCTTCCAGCT	0.592		NA											41	34					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78358943	78358943	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:78358943C>T	uc002jyh.1	+	35	8869	c.8646C>T	c.(8644-8646)ATC>ATT	p.I2882I	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTCCATCAGAGGCTTCC	0.532		NA											11	44					0	0	0	0
NPLOC4	55666	broad.mit.edu	37	17	79563226	79563226	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79563226C>G	uc002kat.3	-	11	1218	c.1036G>C	c.(1036-1038)GAC>CAC	p.D346H	NPLOC4_uc002kau.3_Missense_Mutation_p.D346H|NPLOC4_uc010wur.1_Missense_Mutation_p.D185H	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	346					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCTGGAAGTCTCCTGCAGTG	0.443		NA											24	59					0	0	0	0
P4HB	5034	broad.mit.edu	37	17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79813047C>G	uc002kbn.1	-	4	792	c.595G>C	c.(595-597)GAC>CAC	p.D199H	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	199					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542		NA											65	197					0	0	0	0
NOTUM	147111	broad.mit.edu	37	17	79916266	79916266	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79916266G>A	uc010wvg.1	-	5	809	c.537C>T	c.(535-537)TTC>TTT	p.F179F		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	179						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTAGGGGATGAAGCTGCAAC	0.502		NA											11	44					0	0	0	0
FASN	2194	broad.mit.edu	37	17	80044282	80044282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80044282G>C	uc002kdu.2	-	22	3697	c.3580C>G	c.(3580-3582)CTG>GTG	p.L1194V	FASN_uc002kdw.1_Missense_Mutation_p.L410V	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1194					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCAGCTGCAGGTTCCCGTTG	0.697		NA											12	27					0	0	0	0
C17orf62	79415	broad.mit.edu	37	17	80405459	80405459	+	Missense_Mutation	SNP	C	C	T	rs142773924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80405459C>T	uc002kez.2	-	2	172	c.124G>A	c.(124-126)GGA>AGA	p.G42R	C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G42R|C17orf62_uc010dir.2_Missense_Mutation_p.G42R|C17orf62_uc002kfb.3_Missense_Mutation_p.G42R|C17orf62_uc002kfc.3_Intron|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_Intron|C17orf62_uc010dis.1_Missense_Mutation_p.G42R	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	42	Helical; (Potential).					integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTACCTCCGCTGTAGTAG	0.542		NA											4	14					0	0	0	0
IMPA2	3613	broad.mit.edu	37	18	12028874	12028874	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:12028874C>T	uc002kqp.1	+	7	847	c.633C>T	c.(631-633)CTC>CTT	p.L211L	IMPA2_uc002kqo.1_Silent_p.L22L|IMPA2_uc002kqq.1_Silent_p.L91L	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	211					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	CATTGGCACTCTGCCACCTGG	0.617		NA											42	63					0	0	0	0
MIB1	57534	broad.mit.edu	37	18	19429231	19429231	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19429231C>G	uc002ktq.2	+	17	2468	c.2468C>G	c.(2467-2469)TCA>TGA	p.S823*	MIB1_uc002ktp.2_Nonsense_Mutation_p.S462*	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	823	RING-type 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			ATGGTGTGCTCAGATATGAAG	0.378		NA											50	127					0	0	0	0
GATA6	2627	broad.mit.edu	37	18	19761413	19761413	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19761413G>A	uc002ktt.1	+	4	1568	c.1303_splice	c.e4-1	p.P435_splice	GATA6_uc002ktu.1_Splice_Site_p.P435_splice	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6						blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGTTTCTAGCCTTCATCAC	0.418		NA											11	44					0	0	0	0
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:21404467G>C	uc002kuq.2	+	21	2595	c.2509G>C	c.(2509-2511)GAC>CAC	p.D837H	LAMA3_uc002kur.2_Missense_Mutation_p.D837H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458		NA											31	75					0	0	0	0
DYM	54808	broad.mit.edu	37	18	46906126	46906126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:46906126C>A	uc002ldi.1	-	4	561	c.196G>T	c.(196-198)GAA>TAA	p.E66*	DYM_uc010xdf.1_Intron	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	66				E -> K (in Ref. 2; BAC11088).		Golgi apparatus					0						GGATTGTTTTCAACTGCAAGA	0.303		NA											15	42					2.32e-05	2.42e-05	1	0
RTTN	25914	broad.mit.edu	37	18	67801735	67801735	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:67801735G>A	uc002lkp.2	-	23	2996	c.2928C>T	c.(2926-2928)TTC>TTT	p.F976F	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.F64F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	976							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAGGCAAACTGAAGACCGATG	0.323		NA											12	28					0	0	0	0
MED16	10025	broad.mit.edu	37	19	873569	873569	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:873569G>C	uc002lqd.1	-	11	1936	c.1785C>G	c.(1783-1785)GTC>GTG	p.V595V	MED16_uc010drw.1_Silent_p.V420V|MED16_uc002lqe.2_Silent_p.V584V|MED16_uc002lqf.2_Silent_p.V584V|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Silent_p.V515V|MED16_uc010xfx.1_Silent_p.V440V|MED16_uc010xfy.1_Silent_p.V172V|MED16_uc010xfz.1_RNA	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	595					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGATCATGACCTTGTCAA	0.572		NA											21	33					0	0	0	0
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	A	rs121913315		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1220487G>A	uc002lrl.1	+	4	1695	c.580G>A	c.(580-582)GAC>AAC	p.D194N		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	194	Protein kinase.		D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).|D -> N (in PJS).	D->A: Loss of kinase activity.	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)|p.D194fs*93(1)|p.D194V(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			4	6					0	0	0	0
STK11	6794	broad.mit.edu	37	19	1221279	1221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221279G>A	uc002lrl.1	+	6	1917	c.802G>A	c.(802-804)GGG>AGG	p.G268R		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	268	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAACATCGGGAAGGGGAG	0.607		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			5	8					0	0	0	0
MBD3	53615	broad.mit.edu	37	19	1585105	1585105	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1585105C>T	uc002ltl.1	-	2	241	c.219G>A	c.(217-219)AAG>AAA	p.K73K	MBD3_uc002ltj.2_Silent_p.K73K|MBD3_uc002ltk.2_Silent_p.K41K	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	73					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGTTCATCTTGCTCATCA	0.647		NA											6	25					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9000195	9000195	+	Missense_Mutation	SNP	T	T	C	rs150399289	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9000195T>C	uc002mkp.2	-	55	40766	c.40562A>G	c.(40561-40563)AAC>AGC	p.N13521S	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N338S|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13523	SEA 10.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AACACTGGTGTTCTTGAACAC	0.567		NA											30	39					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9011341	9011341	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9011341C>T	uc002mkp.2	-	36	39096	c.38892G>A	c.(38890-38892)AGG>AGA	p.R12964R	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12966	SEA 6.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAGACTGTTCCTGTCCAGGG	0.547		NA											49	150					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9047213	9047213	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9047213G>A	uc002mkp.2	-	5	34622	c.34418C>T	c.(34417-34419)ACA>ATA	p.T11473I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11475	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGAAAGTTGTAGTGCTGTC	0.507		NA											30	57					0	0	0	0
SPC24	147841	broad.mit.edu	37	19	11266370	11266370	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:11266370C>G	uc002mql.2	-	1	115	c.83G>C	c.(82-84)CGA>CCA	p.R28P	SPC24_uc010xlp.1_Missense_Mutation_p.R28P	NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN	spindle pole body component 24 homolog	28	Interaction with the NDC80-CDCA1 subcomplex.|Interaction with the N-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding				0						CAGCAGCCGTCGCTGCTGCGC	0.701		NA											3	10					0	0	0	0
ZNF700	90592	broad.mit.edu	37	19	12060474	12060474	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:12060474C>T	uc002msu.2	+	4	1761	c.1635C>T	c.(1633-1635)TTC>TTT	p.F545F	ZNF700_uc010xme.1_Silent_p.F563F|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	545	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTAAAGCCTTCAGATGTTGCA	0.423		NA											17	61					0	0	0	0
NACC1	112939	broad.mit.edu	37	19	13247198	13247198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247198G>T	uc002mwm.2	+	3	1267	c.1099G>T	c.(1099-1101)GAG>TAG	p.E367*		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	367					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						CGACCCCTCTGAGAAGCTGGA	0.612		NA											14	51					4.15e-12	4.47e-12	1	0
NACC1	112939	broad.mit.edu	37	19	13247207	13247207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247207G>C	uc002mwm.2	+	3	1276	c.1108G>C	c.(1108-1110)GAG>CAG	p.E370Q		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	370					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						TGAGAAGCTGGAGCTGGTGAC	0.582		NA											12	46					0	0	0	0
C19orf57	79173	broad.mit.edu	37	19	14000824	14000824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14000824G>C	uc002mxl.1	-	6	904	c.845C>G	c.(844-846)TCA>TGA	p.S282*	C19orf57_uc002mxk.1_Nonsense_Mutation_p.S164*|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	282					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTAGGAGCTGATGCTGGGGT	0.711		NA											6	42					0	0	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14020719C>T	uc002mxo.2	+	2	443	c.144C>T	c.(142-144)TTC>TTT	p.F48F	CC2D1A_uc002mxn.2_Missense_Mutation_p.S8F|CC2D1A_uc002mxp.2_Silent_p.F48F	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.522		NA											20	67					0	0	0	0
SYDE1	85360	broad.mit.edu	37	19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:15222217G>A	uc002nah.1	+	5	1415	c.1384G>A	c.(1384-1386)GAG>AAG	p.E462K	SYDE1_uc002nai.1_Missense_Mutation_p.E395K|SYDE1_uc002naj.1_Missense_Mutation_p.E119K	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	462	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CTGCCTATCTGAGGACCTGTA	0.592		NA											4	56					0	0	0	0
SSBP4	170463	broad.mit.edu	37	19	18543509	18543509	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:18543509G>C	uc002niy.2	+	12	989	c.751_splice	c.e12-1	p.I251_splice	SSBP4_uc002niz.2_Splice_Site_p.I229_splice	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4 isoform a							nucleus	single-stranded DNA binding				0						CTTGTCCCCAGATCCCCTACT	0.647		NA											11	22					0	0	0	0
TSSK6	83983	broad.mit.edu	37	19	19625897	19625897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:19625897C>T	uc002nmr.2	-	1	573	c.340G>A	c.(340-342)GAC>AAC	p.D114N	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	114	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GCAAAGAGGTCGCGCGCCTGA	0.657		NA											22	53					0	0	0	0
NUDT19	390916	broad.mit.edu	37	19	33183199	33183199	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:33183199G>A	uc010edf.2	+	1	333	c.333G>A	c.(331-333)AAG>AAA	p.K111K		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	111	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					ATGACCACAAGACCGACAACA	0.716		NA											13	27					0	0	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502416	35502416	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35502416C>T	uc010xse.1	+	7	701	c.564C>T	c.(562-564)TTC>TTT	p.F188F	GRAMD1A_uc002nxi.1_Silent_p.F275F|GRAMD1A_uc002nxk.2_Silent_p.F181F|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.F193F|GRAMD1A_uc002nxm.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	188						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGCTGCTTCCTCCTCATCT	0.617		NA											11	129					0	0	0	0
USF2	7392	broad.mit.edu	37	19	35761375	35761375	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35761375A>G	uc002nyq.1	+	5	564	c.455A>G	c.(454-456)AAT>AGT	p.N152S	USF2_uc010xss.1_Missense_Mutation_p.N152S|USF2_uc002nyr.1_Missense_Mutation_p.N85S|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	152					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCAGCAATGGTGGCAGT	0.592		NA											23	53					0	0	0	0
TMEM147	10430	broad.mit.edu	37	19	36037925	36037925	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:36037925C>T	uc002oaj.1	+	5	520	c.423C>T	c.(421-423)ATC>ATT	p.I141I	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.I92I|TMEM147_uc002oak.1_Silent_p.I96I	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	141	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCCAACATCAGTCTGGTAG	0.567		NA											19	93					0	0	0	0
ZNF383	163087	broad.mit.edu	37	19	37726940	37726940	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:37726940A>G	uc002oft.1	+	7	776	c.196A>G	c.(196-198)ATG>GTG	p.M66V	ZNF383_uc002ofs.1_Missense_Mutation_p.M1V|ZNF383_uc002ofu.1_Missense_Mutation_p.M66V	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.M66I(1)		ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGCCCTGGATGGTTGGCAG	0.498		NA											26	71					0	0	0	0
MAP4K1	11184	broad.mit.edu	37	19	39101700	39101700	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39101700C>G	uc002oix.1	-	11	909	c.801G>C	c.(799-801)AAG>AAC	p.K267N	MAP4K1_uc002oiy.1_Missense_Mutation_p.K267N|MAP4K1_uc010xug.1_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	267	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTGAGCATCTTGGTGGCGC	0.532		NA											6	16					0	0	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39103253G>A	uc002oix.1	-	9	771	c.663C>T	c.(661-663)CTC>CTT	p.L221L	MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607		NA											13	23					0	0	0	0
ZNF546	339327	broad.mit.edu	37	19	40519724	40519724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:40519724G>C	uc002oms.2	+	7	803	c.547G>C	c.(547-549)GAG>CAG	p.E183Q	ZNF546_uc002omt.2_Missense_Mutation_p.E157Q	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATGAATTTGAGAGACAAGA	0.358		NA											22	32					0	0	0	0
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41125251G>A	uc002ooh.1	+	26	3272	c.3272_splice	c.e26-1	p.D1091_splice	LTBP4_uc002oog.1_Splice_Site_p.D1054_splice|LTBP4_uc002ooi.1_Splice_Site_p.D1024_splice|LTBP4_uc002ooj.1_Splice_Site|LTBP4_uc002ook.1_Splice_Site_p.D225_splice|LTBP4_uc002ool.1_Splice_Site_p.D103_splice|LTBP4_uc002oom.1_Splice_Site|LTBP4_uc010xvp.1_Splice_Site	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468		NA											38	104					0	0	0	0
SNRPA	6626	broad.mit.edu	37	19	41257373	41257373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41257373G>C	uc002ooz.2	+	1	595	c.60G>C	c.(58-60)AAG>AAC	p.K20N	C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	20	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAATGAGAAGATCAAGAAGG	0.403		NA											47	91					0	0	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630772	41630772	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41630772C>T	uc002opu.1	+	8	1169	c.1113C>T	c.(1111-1113)GTC>GTT	p.V371V	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	371					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CGCACCGCGTCACTAGGGACA	0.617		NA											5	24					0	0	0	0
C19orf61	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:44251656G>T	uc002oxj.2	-	5	869	c.526C>A	c.(526-528)CGC>AGC	p.R176S	C19orf61_uc002oxk.2_Missense_Mutation_p.R176S|C19orf61_uc010eiy.1_Missense_Mutation_p.R176S	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	176					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				TGCTTCATGCGCTCTGGGGGC	0.572		NA											4	60					0.00909568	0.00929024	1	0
BLOC1S3	388552	broad.mit.edu	37	19	45683082	45683082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:45683082C>G	uc002pax.3	+	2	624	c.528C>G	c.(526-528)ATC>ATG	p.I176M	TRAPPC6A_uc002pav.2_5'Flank|TRAPPC6A_uc002paw.2_5'Flank	NM_212550	NP_997715	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1,	176					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding				0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTCTGGACATCGTGGCTGGCT	0.726		NA							Hermansky-Pudlak_syndrome				9	22					0	0	0	0
OPA3	80207	broad.mit.edu	37	19	46056955	46056955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:46056955C>G	uc002pck.3	-	2	457	c.357G>C	c.(355-357)TGG>TGC	p.W119C	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.W66C	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	119	Potential.				response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGCGCGTTCCAGGCAGCAC	0.716		NA											6	20					0	0	0	0
CCDC9	26093	broad.mit.edu	37	19	47763996	47763996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:47763996G>A	uc010xym.1	+	5	569	c.362G>A	c.(361-363)CGA>CAA	p.R121Q		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	121	Gly-rich.										0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCAGCCTCGAGGAGGAGGA	0.716		NA											12	24					0	0	0	0
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49657579C>G	uc002pmv.2	-	1	1103	c.916G>C	c.(916-918)GAT>CAT	p.D306H		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|1-3.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532		NA											17	55					0	0	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967126	49967126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49967126G>A	uc002pnt.2	+	9	1230	c.1114G>A	c.(1114-1116)GAT>AAT	p.D372N	ALDH16A1_uc010yar.1_Missense_Mutation_p.D321N|ALDH16A1_uc010yas.1_Missense_Mutation_p.D207N|ALDH16A1_uc010yat.1_Missense_Mutation_p.D209N	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	372							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGGCTGGTGATGTGCCTTC	0.383		NA											49	221					0	0	0	0
KLK4	9622	broad.mit.edu	37	19	51410250	51410250	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:51410250A>C	uc002pua.1	-	5	705	c.705T>G	c.(703-705)GGT>GGG	p.G235G	KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.G140G|KLK4_uc002puc.1_RNA	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	235	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTGTAGACACCTGGCACGC	0.552		NA											33	96					0	0	0	0
ZNF766	90321	broad.mit.edu	37	19	52793884	52793884	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:52793884C>T	uc002pyr.1	+	4	883	c.840C>T	c.(838-840)TTC>TTT	p.F280F	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.F295F	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	280	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCAAGGTCTTCAGTCGAATTA	0.403		NA											7	24					0	0	0	0
ZNF816A	125893	broad.mit.edu	37	19	53454424	53454424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:53454424G>A	uc002qal.1	-	5	905	c.604C>T	c.(604-606)CAT>TAT	p.H202Y	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H186Y	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TTAGAAATATGAGTTTTGAGC	0.368		NA											19	66					0	0	0	0
LILRA6	79168	broad.mit.edu	37	19	54744933	54744933	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:54744933G>A	uc002qeu.1	-	5	853	c.729C>T	c.(727-729)CTC>CTT	p.L243L	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.L243L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.L243L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.L243L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.L243L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.L243L|LILRA6_uc010yeq.1_Silent_p.L243L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.L104L	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	243	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCCACACTGGAGGGTCAGGC	0.637		NA											13	95					0	0	0	0
FCAR	2204	broad.mit.edu	37	19	55401037	55401037	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401037G>A	uc002qhr.1	+	5	869	c.672G>A	c.(670-672)ACG>ACA	p.T224T	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T175T|FCAR_uc010esi.1_Silent_p.T101T|FCAR_uc002qhu.1_Silent_p.T128T|FCAR_uc002qhv.1_Silent_p.T202T|FCAR_uc002qhw.1_Silent_p.T212T|FCAR_uc002qhx.1_Silent_p.T116T|FCAR_uc002qhy.1_Silent_p.T190T|FCAR_uc002qhz.1_Missense_Mutation_p.D188N|FCAR_uc002qia.1_Silent_p.T115T	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	224	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		AAGATTACACGACGCAGAACT	0.532		NA											102	303					0	0	0	0
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401049G>C	uc002qhr.1	+	5	881	c.684G>C	c.(682-684)TTG>TTC	p.L228F	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.L179F|FCAR_uc010esi.1_Missense_Mutation_p.L105F|FCAR_uc002qhu.1_Missense_Mutation_p.L132F|FCAR_uc002qhv.1_Missense_Mutation_p.L206F|FCAR_uc002qhw.1_Missense_Mutation_p.L216F|FCAR_uc002qhx.1_Missense_Mutation_p.L120F|FCAR_uc002qhy.1_Missense_Mutation_p.L194F|FCAR_uc002qhz.1_Missense_Mutation_p.D192H|FCAR_uc002qia.1_Missense_Mutation_p.L119F	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	228	Helical; (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		CGCAGAACTTGATCCGCATGG	0.537		NA											108	317					0	0	0	0
ZNF784	147808	broad.mit.edu	37	19	56133815	56133815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:56133815C>T	uc002qll.1	-	2	288	c.274G>A	c.(274-276)GAG>AAG	p.E92K	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCCTCCCTCGGCCCCAGCC	0.711		NA											5	18					0	0	0	0
ZNF671	79891	broad.mit.edu	37	19	58233748	58233748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58233748C>A	uc002qpz.3	-	3	423	c.324G>T	c.(322-324)TGG>TGT	p.W108C	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.W31C|ZNF671_uc010yhf.1_Missense_Mutation_p.W10C	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGTCATACACCCAGGGCTCTT	0.537		NA											10	209					7.48e-07	7.92e-07	1	0
ZNF584	201514	broad.mit.edu	37	19	58921347	58921347	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58921347G>C	uc002qsp.2	+	2	510	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	ZNF584_uc010yia.1_Intron|ZNF584_uc002qsr.2_Intron|ZNF584_uc010yib.1_Missense_Mutation_p.E12Q	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGTGATGTTTGAGGATGTGAC	0.498		NA											23	81					0	0	0	0
GRHL1	29841	broad.mit.edu	37	2	10132193	10132193	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:10132193C>G	uc002raa.2	+	11	1551	c.1380C>G	c.(1378-1380)TTC>TTG	p.F460L	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.F271L|GRHL1_uc010yjb.1_Missense_Mutation_p.F309L	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	460					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCACAGTTTTCAAACCCTTCA	0.433		NA											4	26					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11774361	11774361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:11774361G>T	uc002rbk.1	+	29	5396	c.5096G>T	c.(5095-5097)TGG>TTG	p.W1699L	GREB1_uc002rbp.1_Missense_Mutation_p.W697L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1699						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCGGAAGTGGTCCAGCAAG	0.607		NA											16	64					6.32e-08	6.72e-08	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699613	17699613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:17699613C>T	uc002rcl.1	-	1	94	c.70G>A	c.(70-72)GAG>AAG	p.E24K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E15K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	24										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGGGTCCTCAGGAGGCGTT	0.602		NA											40	109					0	0	0	0
WDR35	57539	broad.mit.edu	37	2	20130163	20130165	+	Nonsense_Mutation	TNP	TCA	TCA	ATG			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130163_20130165TCA>ATG	uc002rdi.2	-	26	3254_3256	c.3146_3148TGA>CAT	c.(3145-3150)CTGAAG>CCATAG	p.1049_1050LK>P*	WDR35_uc002rdj.2_Nonsense_Mutation_p.1038_1039LK>P*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.522_523LK>P*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	1049_1050										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGTCTTCAGTGCAGTGTC	0.433		NA											19	173					0	0	0	0
APOB	338	broad.mit.edu	37	2	21238409	21238409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:21238409G>A	uc002red.2	-	22	3469	c.3341C>T	c.(3340-3342)ACA>ATA	p.T1114I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1114					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTTCCTTTGTGTCACAACT	0.423		NA											6	33					0	0	0	0
CAD	790	broad.mit.edu	37	2	27463930	27463930	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:27463930G>A	uc002rji.2	+	37	5805	c.5643G>A	c.(5641-5643)CTG>CTA	p.L1881L	CAD_uc010eyw.2_Silent_p.L1818L	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1881	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCAGAGCTGATGGGAACCC	0.622		NA											43	101					0	0	0	0
EPCAM	4072	broad.mit.edu	37	2	47601169	47601169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:47601169C>G	uc002rvx.2	+	3	765	c.407C>G	c.(406-408)TCT>TGT	p.S136C	EPCAM_uc002rvw.2_Missense_Mutation_p.S164C	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	136	Extracellular (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1						ATAACCTGCTCTGAGCGAGTG	0.433		NA							Lynch_syndrome				8	39					0	0	0	0
RPS27A	6233	broad.mit.edu	37	2	55460509	55460509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:55460509C>G	uc010yow.1	+	3	256	c.59C>G	c.(58-60)TCG>TGG	p.S20W	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.S20W|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	NM_001135592	NP_001129064	P62979	RS27A_HUMAN	ubiquitin and ribosomal protein S27a precursor	20	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	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			ovary(1)	1						GTTGAACCCTCGGATACGATA	0.408		NA											4	30					0	0	0	0
AAK1	22848	broad.mit.edu	37	2	69704114	69704114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:69704114C>T	uc002sfp.2	-	21	3194	c.2689G>A	c.(2689-2691)GAT>AAT	p.D897N		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	897						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						AGATTACTATCTTCTGCAGCT	0.423		NA											3	11					0	0	0	0
STAMBP	10617	broad.mit.edu	37	2	74074516	74074516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74074516G>C	uc002sjs.2	+	5	428	c.378G>C	c.(376-378)AAG>AAC	p.K126N	STAMBP_uc002sjt.2_Missense_Mutation_p.K126N|STAMBP_uc002sju.2_Missense_Mutation_p.K126N|STAMBP_uc002sjv.2_Missense_Mutation_p.K126N	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	126	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						CTTTGTAGAAGAAGGAAGCAG	0.448		NA											8	29					0	0	0	0
MOGS	7841	broad.mit.edu	37	2	74690021	74690021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74690021C>T	uc010ffj.2	-	4	1058	c.895G>A	c.(895-897)GGC>AGC	p.G299S	MOGS_uc010ffh.2_Missense_Mutation_p.G24S|MOGS_uc010yrt.1_Missense_Mutation_p.G180S|MOGS_uc010ffi.2_Missense_Mutation_p.G193S|MOGS_uc010yru.1_3'UTR	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	299	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						CCTGGCAAGCCGAGGTAGCGT	0.582		NA											51	134					0	0	0	0
CAPG	822	broad.mit.edu	37	2	85628366	85628366	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628366C>T	uc002spl.1	-	5	688	c.438G>A	c.(436-438)AAG>AAA	p.K146K	CAPG_uc002spm.1_Silent_p.K146K|CAPG_uc010ysq.1_Silent_p.K146K|CAPG_uc010fgi.1_Silent_p.K146K|CAPG_uc010fgj.1_Silent_p.K40K	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	146	Nuclear localization signal (Potential).				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						CACGGATGTTCTTCTTCCCCT	0.592		NA											34	96					0	0	0	0
CAPG	822	broad.mit.edu	37	2	85628369	85628369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628369C>A	uc002spl.1	-	5	685	c.435G>T	c.(433-435)AAG>AAT	p.K145N	CAPG_uc002spm.1_Missense_Mutation_p.K145N|CAPG_uc010ysq.1_Missense_Mutation_p.K145N|CAPG_uc010fgi.1_Missense_Mutation_p.K145N|CAPG_uc010fgj.1_Missense_Mutation_p.K39N	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	145	Nuclear localization signal (Potential).				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						GGATGTTCTTCTTCCCCTTCA	0.602		NA											34	95					2.76e-19	3.01e-19	1	0
TTL	150465	broad.mit.edu	37	2	113258824	113258824	+	Missense_Mutation	SNP	G	G	C	rs2943625		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258824G>C	uc002thu.2	+	4	690	c.511G>C	c.(511-513)GAT>CAT	p.D171H	TTL_uc010fkm.1_5'Flank	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	171	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGCTTCTCGATTTCATAGA	0.458		NA	T	ETV6	ALL								9	50					0	0	0	0
TTL	150465	broad.mit.edu	37	2	113258890	113258890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258890G>C	uc002thu.2	+	4	756	c.577G>C	c.(577-579)GAG>CAG	p.E193Q	TTL_uc010fkm.1_5'Flank	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	193	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTGCTGCTTGAGCCAGGTCA	0.463		NA	T	ETV6	ALL								13	49					0	0	0	0
CLASP1	23332	broad.mit.edu	37	2	122165228	122165228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:122165228C>T	uc002tnc.2	-	25	2878	c.2488G>A	c.(2488-2490)GAT>AAT	p.D830N	CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D810N|CLASP1_uc010yza.1_Missense_Mutation_p.D802N|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.D801N	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	830					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTTGAGGCATCACTGTTGGCA	0.502		NA											38	115					0	0	0	0
LIMS2	55679	broad.mit.edu	37	2	128415128	128415128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:128415128G>A	uc002tpa.2	-	2	186	c.20C>T	c.(19-21)TCG>TTG	p.S7L	LIMS2_uc002tox.2_Missense_Mutation_p.S31L|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.S2L|LIMS2_uc010yzm.1_Missense_Mutation_p.S29L|LIMS2_uc002toz.2_Missense_Mutation_p.S2L|LIMS2_uc002tpb.2_Missense_Mutation_p.S2L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	7					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAAGGCGTCCGACATATTGCT	0.662		NA											24	61					0	0	0	0
R3HDM1	23518	broad.mit.edu	37	2	136399347	136399347	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:136399347C>T	uc002tuo.2	+	15	1831	c.1461C>T	c.(1459-1461)ATC>ATT	p.I487I	R3HDM1_uc010fni.2_Silent_p.I485I|R3HDM1_uc002tup.2_Silent_p.I431I|R3HDM1_uc010zbh.1_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	487							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATTCTGATCAACCCACAAA	0.418		NA											14	47					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152381070	152381070	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:152381070C>G	uc010fnx.2	-	124	17421	c.17230G>C	c.(17230-17232)GAC>CAC	p.D5744H	NEB_uc002txr.2_Missense_Mutation_p.D2167H|NEB_uc002txt.3_Missense_Mutation_p.D249H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5744	Nebulin 157.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGATGTCTGGTCGATCA	0.502		NA											49	146					0	0	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555807	155555807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:155555807G>A	uc002tyv.1	+	1	715	c.520G>A	c.(520-522)GCC>ACC	p.A174T	KCNJ3_uc010zce.1_Missense_Mutation_p.A174T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	174	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CATCGTGGACGCCTTCCTCAT	0.597		NA											13	49					0	0	0	0
TANC1	85461	broad.mit.edu	37	2	160087378	160087378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:160087378C>T	uc002uag.2	+	27	5715	c.5441C>T	c.(5440-5442)TCT>TTT	p.S1814F	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.S658F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1814						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CCAGTCCACTCTCAAGAGAAC	0.463		NA											8	43					0	0	0	0
SCN2A	6326	broad.mit.edu	37	2	166210745	166210745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166210745C>T	uc002udc.2	+	17	3253	c.2963C>T	c.(2962-2964)TCT>TTT	p.S988F	SCN2A_uc002udd.2_Missense_Mutation_p.S988F|SCN2A_uc002ude.2_Missense_Mutation_p.S988F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	988	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TCCTTCAGTTCTGACAATCTT	0.383		NA											40	171					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166900256	166900256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166900256C>A	uc010zcz.1	-	11	1984	c.1966G>T	c.(1966-1968)GGA>TGA	p.G656*	SCN1A_uc002udo.3_Nonsense_Mutation_p.G525*|SCN1A_uc010fpk.2_Intron	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	656						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTGAAGGTCCACCAACCAAG	0.478		NA											6	75					8.13e-05	8.47e-05	1	0
NOSTRIN	115677	broad.mit.edu	37	2	169684718	169684718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:169684718C>T	uc002ueg.2	+	4	252	c.248C>T	c.(247-249)GCG>GTG	p.A83V	NOSTRIN_uc002uef.2_Missense_Mutation_p.A83V|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Missense_Mutation_p.A55V|NOSTRIN_uc002ueh.2_Missense_Mutation_p.A5V|NOSTRIN_uc002uej.2_5'UTR	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	83					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						AAATCCACAGCGGACCTGCAT	0.463		NA											14	48					0	0	0	0
HOXD8	3234	broad.mit.edu	37	2	176995585	176995585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:176995585C>T	uc002uko.2	+	1	1109	c.491C>T	c.(490-492)TCG>TTG	p.S164L	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_5'UTR|HOXD8_uc002ukp.2_Missense_Mutation_p.S164L	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	164					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGTAAATCGTCCAGTGGT	0.488		NA											25	118					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179398942C>T	uc010zfg.1	-	307	94920	c.94696G>A	c.(94696-94698)GAA>AAA	p.E31566K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25261K|TTN_uc010zfi.1_Missense_Mutation_p.E25194K|TTN_uc010zfj.1_Missense_Mutation_p.E25069K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCAATTTCAATGGATGCC	0.443		NA											30	86					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179498729	179498729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179498729G>A	uc010zfg.1	-	180	35017	c.34793C>T	c.(34792-34794)TCT>TTT	p.S11598F	TTN_uc010zfh.1_Missense_Mutation_p.S5293F|TTN_uc010zfi.1_Missense_Mutation_p.S5226F|TTN_uc010zfj.1_Missense_Mutation_p.S5101F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12525							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCATGAGAAAGTTCACA	0.368		NA											69	156					0	0	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634445	180634445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:180634445T>C	uc002unn.3	-	3	642	c.38A>G	c.(37-39)AAG>AGG	p.K13R		NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	13						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTTTATCCCCTTTTCTTCAAA	0.423		NA											3	87					0	0	0	0
SSFA2	6744	broad.mit.edu	37	2	182763789	182763789	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:182763789G>A	uc002uoi.2	+	6	775	c.453G>A	c.(451-453)GGG>GGA	p.G151G	SSFA2_uc002uoh.2_Silent_p.G151G|SSFA2_uc002uoj.2_Silent_p.G151G|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	151						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCAGAAAGGGAGAAGTATGA	0.323		NA											5	27					0	0	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190626240	190626240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:190626240C>G	uc002uqz.1	-	2	661	c.127G>C	c.(127-129)GAA>CAA	p.E43Q	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.E43Q	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	43					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAACTAGTTTCAATTCCCAAT	0.313		NA											10	78					0	0	0	0
INPP1	3628	broad.mit.edu	37	2	191235867	191235867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191235867C>G	uc002ury.3	+	7	1639	c.939C>G	c.(937-939)TTC>TTG	p.F313L	INPP1_uc010fsb.2_Missense_Mutation_p.F313L|INPP1_uc002urx.3_Missense_Mutation_p.F313L	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	313					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATACCACATTCAAATGGGACT	0.468		NA											15	55					0	0	0	0
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191895766G>A	uc002usm.1	-	23	2406	c.2152C>T	c.(2152-2154)CTT>TTT	p.L718F	STAT4_uc002usn.1_Missense_Mutation_p.L718F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	718					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACATGGGAAGAAGGTCTGAT	0.403		NA											35	146					0	0	0	0
SATB2	23314	broad.mit.edu	37	2	200173562	200173562	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:200173562A>G	uc002uuy.1	-	10	2478	c.1661T>C	c.(1660-1662)GTC>GCC	p.V554A	SATB2_uc010fsq.1_Missense_Mutation_p.V436A|SATB2_uc002uuz.1_Missense_Mutation_p.V554A|SATB2_uc002uva.1_Missense_Mutation_p.V554A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	554	CUT 2.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCATAGATGACATCCCTCTC	0.597		NA											21	76					0	0	0	0
BMPR2	659	broad.mit.edu	37	2	203395617	203395617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:203395617G>A	uc002uzf.3	+	8	2216	c.1068G>A	c.(1066-1068)ATG>ATA	p.M356I	BMPR2_uc010ftr.2_Missense_Mutation_p.M356I	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	356	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GACTGTCCATGAGGCTGACTG	0.418		NA											9	23					0	0	0	0
GPR1	2825	broad.mit.edu	37	2	207041250	207041250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:207041250G>C	uc002vbl.3	-	3	1108	c.722C>G	c.(721-723)TCC>TGC	p.S241C	GPR1_uc010fue.2_Missense_Mutation_p.S241C|GPR1_uc010fuf.2_Missense_Mutation_p.S241C	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	241	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGCCTACTGGAGATCAGGAT	0.443		NA											7	38					0	0	0	0
CXCR2	3579	broad.mit.edu	37	2	219000410	219000410	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219000410C>T	uc002vgz.1	+	4	1111	c.886C>T	c.(886-888)CTG>TTG	p.L296L	CXCR2_uc002vha.1_Silent_p.L296L|CXCR2_uc002vhb.1_Silent_p.L296L	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	296	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CGACCGGGCTCTGGATGCCAC	0.587		NA											34	74					0	0	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695504	219695504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219695504G>A	uc002vjb.1	-	3	213	c.194C>T	c.(193-195)TCG>TTG	p.S65L	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S65L|PRKAG3_uc010zko.1_Missense_Mutation_p.S65L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	65					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCCACCGACTTCTGCCT	0.607		NA											28	61					0	0	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099962	220099962	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220099962A>T	uc002vkg.2	+	10	1793	c.1619A>T	c.(1618-1620)CAT>CTT	p.H540L	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.2_Missense_Mutation_p.H330L|ANKZF1_uc002vki.2_Missense_Mutation_p.H540L|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	540	ANK 2.					intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCTGCATGCAGCAGCT	0.587		NA											28	60					0	0	0	0
ANKZF1	55139	broad.mit.edu	37	2	220101166	220101166	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220101166G>A	uc002vkg.2	+	14	2354	c.2180G>A	c.(2179-2181)TGA>TAA	p.*727*	ANKZF1_uc002vkh.2_Silent_p.*517*|ANKZF1_uc002vki.2_Silent_p.*727*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	727						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCTTCCTGATCTCTTACA	0.557		NA											12	38					0	0	0	0
TMEM198	130612	broad.mit.edu	37	2	220412742	220412742	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220412742C>T	uc002vme.2	+	4	1266	c.681C>T	c.(679-681)CTC>CTT	p.L227L	TMEM198_uc002vmf.2_Silent_p.L227L	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	227	Leu-rich.|Helical; (Potential).					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCCCTGCTCAGCCTGATGG	0.667		NA											3	12					0	0	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559247	223559247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:223559247G>C	uc010fws.1	+	4	693	c.645G>C	c.(643-645)TTG>TTC	p.L215F	MOGAT1_uc010fwt.1_Missense_Mutation_p.L175F	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413		NA											10	23					0	0	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902183	230902183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:230902183C>G	uc002vqd.1	-	5	1809	c.1446G>C	c.(1444-1446)ATG>ATC	p.M482I	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	482	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTATTCCTATCATGTAAAGCA	0.328		NA											6	31					0	0	0	0
C2orf57	165100	broad.mit.edu	37	2	232458485	232458485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:232458485T>C	uc002vrz.2	+	1	874	c.823T>C	c.(823-825)TCC>CCC	p.S275P		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	275										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTACATGCGCTCCATGACCAG	0.662		NA											3	88					0	0	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233001212C>G	uc010fxz.2	+	8	1009	c.733C>G	c.(733-735)CGA>GGA	p.R245G	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	245							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433		NA											21	85					0	0	0	0
ALPI	248	broad.mit.edu	37	2	233321905	233321905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233321905C>T	uc002vst.3	+	5	598	c.521C>T	c.(520-522)TCG>TTG	p.S174L	ALPI_uc002vsu.3_Missense_Mutation_p.S85L	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	174					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGCACGCCTCGCCAGCCGGC	0.627		NA											16	50					0	0	0	0
INPP5D	3635	broad.mit.edu	37	2	234091127	234091127	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:234091127C>A	uc010zmo.1	+	18	2296	c.2143C>A	c.(2143-2145)CAG>AAG	p.Q715K	INPP5D_uc010zmp.1_Missense_Mutation_p.Q714K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	715					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCACTTCCCAGTTTGTCTC	0.507		NA											18	65					1.34e-09	1.43e-09	1	0
TBC1D20	128637	broad.mit.edu	37	20	428599	428599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:428599C>A	uc002wds.2	-	2	328	c.190G>T	c.(190-192)GAG>TAG	p.E64*	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	64	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CGTCTGATCTCATCAGTCAGG	0.532		NA											13	47					6.32e-08	6.72e-08	1	0
TMC2	117532	broad.mit.edu	37	20	2560666	2560666	+	Silent	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:2560666T>A	uc002wgf.1	+	7	813	c.798T>A	c.(796-798)CTT>CTA	p.L266L	TMC2_uc002wgg.1_Silent_p.L250L|TMC2_uc010zpw.1_Silent_p.L98L|TMC2_uc010zpx.1_Silent_p.L97L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	266	Helical; (Potential).					integral to membrane				ovary(3)	3						ACCTTGTCCTTTTTGGCTTAA	0.393		NA											6	82					0	0	0	0
C20orf194	25943	broad.mit.edu	37	20	3299010	3299010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:3299010C>A	uc002wii.2	-	17	1445	c.1394G>T	c.(1393-1395)GGA>GTA	p.G465V	C20orf194_uc002wij.3_Missense_Mutation_p.G204V|C20orf194_uc002wik.2_Missense_Mutation_p.G139V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	465											0						ACCATTGCCTCCCAGTAAGTC	0.388		NA											25	61					3.73e-12	4.02e-12	1	0
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:4705248C>G	uc002wkz.2	+	2	122	c.51C>G	c.(49-51)CTC>CTG	p.L17L		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	17					protein homooligomerization	anchored to membrane|plasma membrane					0						GCATGCTGCTCTTCAGCCACC	0.632		NA											23	64					0	0	0	0
DTD1	92675	broad.mit.edu	37	20	18724748	18724748	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:18724748C>G	uc002wrf.3	+	5	643	c.482C>G	c.(481-483)TCA>TGA	p.S161*		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	161					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2						aatCAGCTGTCAAAGCTCGAA	0.408		NA											5	8					0	0	0	0
MYH7B	57644	broad.mit.edu	37	20	33567491	33567491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:33567491C>T	uc010gfa.1	+	4	347	c.226C>T	c.(226-228)CAG>TAG	p.Q76*	MYH7B_uc002xbi.1_Nonsense_Mutation_p.Q118*			A7E2Y1	MYH7B_HUMAN	RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;	76						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGAGCTGCAGCCCATGAA	0.647		NA											25	87					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34054793	34054793	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054793C>T	uc002xcm.2	+	9	1166	c.495C>T	c.(493-495)TTC>TTT	p.F165F	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	165					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACACACAGTTCTTCAAGGGCT	0.522		NA											18	42					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34054830	34054830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054830C>T	uc002xcm.2	+	9	1203	c.532C>T	c.(532-534)CTC>TTC	p.L178F	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	178					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGTCGCCTTCTCAGTCTATG	0.532		NA											17	45					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34054880	34054880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054880G>C	uc002xcm.2	+	9	1253	c.582G>C	c.(580-582)ATG>ATC	p.M194I	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.M1I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	194					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCTGGAAATGAAGTCAGCTA	0.527		NA											16	45					0	0	0	0
SPAG4	6676	broad.mit.edu	37	20	34206846	34206846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34206846G>C	uc002xdb.1	+	8	836	c.719G>C	c.(718-720)AGA>ACA	p.R240T	SPAG4_uc010zvi.1_Missense_Mutation_p.R163T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	240	Potential.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCTTGCAGAGAGTGGCCAAG	0.582		NA											14	57					0	0	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155390	35155390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:35155390G>C	uc002xff.2	+	13	3361	c.2926G>C	c.(2926-2928)GAC>CAC	p.D976H	DLGAP4_uc010zvp.1_Missense_Mutation_p.D976H|DLGAP4_uc002xfg.2_Missense_Mutation_p.D272H|DLGAP4_uc002xfh.2_Missense_Mutation_p.D440H|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Missense_Mutation_p.D272H|uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	979					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557		NA											10	50					0	0	0	0
SDC4	6385	broad.mit.edu	37	20	43964468	43964468	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:43964468G>A	uc002xnu.2	-	2	193	c.153C>T	c.(151-153)CCC>CCT	p.P51P	SDC4_uc010zws.1_Intron	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	51	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				ATTCCTGCCCGGGCCCCACTA	0.582		NA											31	47					0	0	0	0
NFATC2	4773	broad.mit.edu	37	20	50140540	50140540	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:50140540G>A	uc002xwd.2	-	2	460	c.240C>T	c.(238-240)GGC>GGT	p.G80G	NFATC2_uc002xwc.2_Silent_p.G80G|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.G60G|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.G60G	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	80					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CGGGGGGCTCGCCAGAGAGAC	0.657		NA											22	75					0	0	0	0
LSM14B	149986	broad.mit.edu	37	20	60706468	60706468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60706468G>A	uc010gjy.1	+	7	1098	c.892G>A	c.(892-894)GAA>AAA	p.E298K	LSM14B_uc002ybv.2_Missense_Mutation_p.E272K|LSM14B_uc010zzz.1_Missense_Mutation_p.E218K	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	298					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGAGTGCCGAAGCGCCCGC	0.537		NA											7	27					0	0	0	0
GTPBP5	26164	broad.mit.edu	37	20	60775858	60775858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60775858G>C	uc002yce.3	+	7	984	c.946G>C	c.(946-948)GAG>CAG	p.E316Q	GTPBP5_uc011aab.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aac.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aad.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aae.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aaf.1_Missense_Mutation_p.E158Q	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	316	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TTCTCAGCCTGAGCCGTGGAC	0.547		NA											63	215					0	0	0	0
RTEL1	51750	broad.mit.edu	37	20	62298846	62298846	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62298846G>C	uc002yfu.1	+	8	982	c.639G>C	c.(637-639)CGG>CGC	p.R213R	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.R213R|RTEL1_uc011abd.1_Silent_p.R237R|RTEL1_uc002yfv.2_Silent_p.R263R|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	213	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACCTGTCCCGGAACCTGAAGC	0.572		NA											61	145					0	0	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904683	62904683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62904683G>C	uc002yil.3	+	6	1016	c.816G>C	c.(814-816)AAG>AAC	p.K272N	PCMTD2_uc002yim.3_Missense_Mutation_p.K245N	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGGACTAAAGAACACCCCCA	0.493		NA											27	87					0	0	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709486	31709486	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:31709486G>A	uc002ynx.1	-	1	527	c.501C>T	c.(499-501)AAC>AAT	p.N167N		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	167						intermediate filament				ovary(2)	2						TGGATTCAGGGTTCTGAGACT	0.478		NA											31	78					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32493057	32493057	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:32493057T>C	uc002yow.1	-	29	4877	c.4405A>G	c.(4405-4407)AAA>GAA	p.K1469E	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.K1409E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1469					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGGGACTCTTTCTCCGGGCTG	0.577		NA											3	58					0	0	0	0
RUNX1	861	broad.mit.edu	37	21	36171624	36171624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171624G>A	uc002yuh.2	-	5	2438	c.860C>T	c.(859-861)TCT>TTT	p.S287F	RUNX1_uc002yui.2_Missense_Mutation_p.S223F|RUNX1_uc010gmu.2_Missense_Mutation_p.S314F|RUNX1_uc010gmv.2_Missense_Mutation_p.S314F|RUNX1_uc002yuj.3_Missense_Mutation_p.S182F|RUNX1_uc002yuk.3_Missense_Mutation_p.S314F|RUNX1_uc002yul.1_Missense_Mutation_p.S79F|RUNX1_uc002yum.1_Missense_Mutation_p.S118F	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	287	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y287fs*197(1)|p.S314fs*168(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						AAGTTCTGCAGAGAGGGTTGT	0.532		NA	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				6	97					0	0	0	0
RUNX1	861	broad.mit.edu	37	21	36171681	36171681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171681G>A	uc002yuh.2	-	5	2381	c.803C>T	c.(802-804)TCT>TTT	p.S268F	RUNX1_uc002yui.2_Missense_Mutation_p.S204F|RUNX1_uc010gmu.2_Missense_Mutation_p.S295F|RUNX1_uc010gmv.2_Missense_Mutation_p.S295F|RUNX1_uc002yuj.3_Missense_Mutation_p.S163F|RUNX1_uc002yuk.3_Missense_Mutation_p.S295F|RUNX1_uc002yul.1_Missense_Mutation_p.S60F|RUNX1_uc002yum.1_Missense_Mutation_p.S99F	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	268	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TGGGTGCACAGAAGGAGAGGC	0.522		NA	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				7	79					0	0	0	0
ETS2	2114	broad.mit.edu	37	21	40191453	40191453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40191453G>A	uc002yxg.2	+	8	1034	c.838G>A	c.(838-840)GAG>AAG	p.E280K	ETS2_uc002yxf.2_Missense_Mutation_p.E420K	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	280					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGACTCCCCTGAGAACGGTGC	0.557		NA											46	34					0	0	0	0
ETS2	2114	broad.mit.edu	37	21	40194646	40194646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194646G>A	uc002yxg.2	+	10	1439	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	ETS2_uc002yxf.2_Missense_Mutation_p.E555K	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	415	ETS.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GATGAACTACGAGAAGCTGAG	0.493		NA											60	44					0	0	0	0
ETS2	2114	broad.mit.edu	37	21	40194812	40194812	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194812G>T	uc002yxg.2	+	10	1605	c.1409G>T	c.(1408-1410)TGA>TTA	p.*470L	ETS2_uc002yxf.2_Nonstop_Mutation_p.*610L	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	470					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ACGGAGGACTGAGGTCGCCGG	0.657		NA											31	11					1.75e-11	1.88e-11	1	0
PSMG1	8624	broad.mit.edu	37	21	40549373	40549373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40549373C>G	uc002yxi.2	-	6	909	c.780G>C	c.(778-780)AAG>AAC	p.K260N	PSMG1_uc002yxj.2_Missense_Mutation_p.K239N|PSMG1_uc010gob.2_Missense_Mutation_p.K173N	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	260					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				TAACCAAACCCTTCAAGCTTC	0.323		NA											8	21					0	0	0	0
FAM3B	54097	broad.mit.edu	37	21	42694889	42694889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:42694889G>T	uc002yzb.1	+	2	205	c.59G>T	c.(58-60)TGT>TTT	p.C20F	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.C43F|FAM3B_uc011aeq.1_Missense_Mutation_p.C34F	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	20					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCCTCCTTGTGTGCCTGGTAT	0.622		NA											9	44					0.000442599	0.000458503	1	0
RRP1B	23076	broad.mit.edu	37	21	45104516	45104516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45104516C>G	uc002zdk.2	+	10	1088	c.974C>G	c.(973-975)TCC>TGC	p.S325C	RRP1B_uc002zdl.2_5'Flank	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	325					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		AAGCGCCTCTCCAAACTCATC	0.488		NA											4	44					0	0	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959218	45959218	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959218G>A	uc002zfh.1	-	1	861	c.816C>T	c.(814-816)CTC>CTT	p.L272L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	272						keratin filament				skin(1)	1						CGGGGCGGCAGAGGAGGGACA	0.726		NA											12	22					0	0	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959660	45959660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959660G>C	uc002zfh.1	-	1	419	c.374C>G	c.(373-375)TCT>TGT	p.S125C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	125	10.|24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						CTGGCAGCTAGACTGCTGGCA	0.373		NA											32	113					0	0	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959828G>A	uc002zfh.1	-	1	251	c.206C>T	c.(205-207)TCA>TTA	p.S69L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						GGTGCAGCCTGATTGGCAGGG	0.498		NA											20	75					0	0	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994519	45994519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45994519C>G	uc002zfk.1	+	1	914	c.884C>G	c.(883-885)TCT>TGT	p.S295C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	295	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						GGGGCTTCCTCTCTGTGCTGC	0.637		NA											13	181					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47773920	47773920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:47773920G>A	uc002zji.3	+	11	1806	c.1699G>A	c.(1699-1701)GAA>AAA	p.E567K	PCNT_uc002zjj.2_Missense_Mutation_p.E449K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	567	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGTGGGTTTAGAAGAGAAACC	0.498		NA											3	14					0	0	0	0
XKR3	150165	broad.mit.edu	37	22	17288751	17288751	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17288751G>A	uc002zlv.2	-	2	311	c.213C>T	c.(211-213)ATC>ATT	p.I71I	XKR3_uc011agf.1_Silent_p.I71I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	71	Helical; (Potential).					integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATAAAGCTGATGGTAAATG	0.358		NA											16	46					0	0	0	0
CECR2	27443	broad.mit.edu	37	22	17956654	17956654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17956654G>C	uc010gqw.1	+	1	151	c.25G>C	c.(25-27)GAT>CAT	p.D9H	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	51					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)		TCTTCACAGAGATGACGTGGA	0.463		NA											22	57					0	0	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072904	18072904	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18072904G>A	uc002zmp.1	+	11	1344	c.850G>A	c.(850-852)GCT>ACT	p.A284T	SLC25A18_uc002zmq.1_Missense_Mutation_p.A284T	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	284	Solcar 3.					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CATGAAAGGCGCTGGCTGCCG	0.527		NA											19	81					0	0	0	0
BID	637	broad.mit.edu	37	22	18220787	18220787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18220787C>T	uc002znd.1	-	5	742	c.572G>A	c.(571-573)AGA>AAA	p.R191K	BID_uc002znc.1_Missense_Mutation_p.R237K|BID_uc002zne.1_Missense_Mutation_p.R95K|BID_uc010gra.1_RNA|BID_uc002znf.1_Missense_Mutation_p.R95K|BID_uc010grb.1_Missense_Mutation_p.R191K|BID_uc010grc.1_Missense_Mutation_p.R95K	NM_001196	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 2	191					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)		Lung(27;0.0419)		TCTTACATTTCTGGCTAAGCT	0.552		NA											24	66					0	0	0	0
TUBA8	51807	broad.mit.edu	37	22	18604368	18604368	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604368G>C	uc002znv.1	+	2	199	c.126G>C	c.(124-126)AAG>AAC	p.K42N	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.K66N|TUBA8_uc002znu.1_Missense_Mutation_p.K42N	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	42					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						AAGCTAGCAAGATCAACGATG	0.552		NA											12	53					0	0	0	0
TUBA8	51807	broad.mit.edu	37	22	18604405	18604405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604405G>A	uc002znv.1	+	2	236	c.163G>A	c.(163-165)GAG>AAG	p.E55K	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.E79K|TUBA8_uc002znu.1_Missense_Mutation_p.E55K	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	55					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CTTTTTCAGCGAGACTGGCAA	0.557		NA											9	56					0	0	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207486	19207486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:19207486C>T	uc002zpb.2	-	18	2902	c.2827G>A	c.(2827-2829)GAG>AAG	p.E943K	CLTCL1_uc011agv.1_Missense_Mutation_p.E943K|CLTCL1_uc011agw.1_Missense_Mutation_p.E943K	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	943	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TAGCGGGCCTCGCTTTTGAAC	0.552		NA	T	?	ALCL								38	130					0	0	0	0
PI4KA	5297	broad.mit.edu	37	22	21107310	21107310	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:21107310C>T	uc002zsz.3	-	25	2925	c.2694G>A	c.(2692-2694)AAG>AAA	p.K898K		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	898					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTCCTTGGTCTTGGCCTAGA	0.537		NA											29	50					0	0	0	0
ZNF70	7621	broad.mit.edu	37	22	24086061	24086061	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086061G>A	uc002zxs.2	-	2	1728	c.1267C>T	c.(1267-1269)CTG>TTG	p.L423L	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	423	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TTGCCGCACAGATTGCACACG	0.547		NA											59	119					0	0	0	0
ZNF70	7621	broad.mit.edu	37	22	24086776	24086776	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086776G>C	uc002zxs.2	-	2	1013	c.552C>G	c.(550-552)CTC>CTG	p.L184L	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	184	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TCTGGTGCCTGAGCAGGTGGG	0.622		NA											13	48					0	0	0	0
UPB1	51733	broad.mit.edu	37	22	24911253	24911253	+	Missense_Mutation	SNP	C	C	T	rs144135211		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24911253C>T	uc003aaf.2	+	6	827	c.706C>T	c.(706-708)CGG>TGG	p.R236W	UPB1_uc003aae.2_Missense_Mutation_p.R168W|UPB1_uc011ajt.1_Missense_Mutation_p.R236W	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	236	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					TTGCTACGGGCGGCACCACCC	0.562		NA											26	64					0	0	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:29445929G>A	uc003aeg.2	+	8	1625	c.1460G>A	c.(1459-1461)CGC>CAC	p.R487H	ZNRF3_uc003aeh.1_Missense_Mutation_p.R487H	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TCCACCTTCCGCAGCTCCCTC	0.637		NA											32	109					0	0	0	0
SMTN	6525	broad.mit.edu	37	22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:31484020G>A	uc003ajl.1	+	3	339	c.121G>A	c.(121-123)GAG>AAG	p.E41K	SMTN_uc003ajk.1_Missense_Mutation_p.E41K|SMTN_uc003ajm.1_Missense_Mutation_p.E41K|SMTN_uc011ale.1_Missense_Mutation_p.E95K|SMTN_uc011alf.1_Missense_Mutation_p.E97K|SMTN_uc003ajn.1_Missense_Mutation_p.E33K|SMTN_uc011alg.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	41	Potential.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GCAGCGGCAGGAGCTGGAGCG	0.652		NA											6	28					0	0	0	0
RFPL2	10739	broad.mit.edu	37	22	32587230	32587230	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:32587230C>T	uc003amg.3	-	5	1602	c.666G>A	c.(664-666)GAG>GAA	p.E222E	RFPL2_uc003ame.3_Silent_p.E161E|RFPL2_uc003amf.3_Silent_p.E132E|RFPL2_uc003amh.3_Silent_p.E132E	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	222	B30.2/SPRY.						zinc ion binding			skin(1)	1						CGTCAAATCTCTCGGCAAGGT	0.582		NA											8	95					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36691644	36691645	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691644_36691645TC>AT	uc003apg.2	-	26	3622_3623	c.3391_3392GA>AT	c.(3391-3393)GAG>ATG	p.E1131M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1131	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTTCTGCTTCTCAGCTTTATTC	0.55		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				7	37					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120212	38120212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:38120212C>G	uc003atr.2	+	7	1920	c.1649C>G	c.(1648-1650)ACA>AGA	p.T550R	TRIOBP_uc003atu.2_Missense_Mutation_p.T378R|TRIOBP_uc003atq.1_Missense_Mutation_p.T550R|TRIOBP_uc003ats.1_Missense_Mutation_p.T378R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	550					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GACAACCCCACAACATCCTGT	0.597		NA											6	249					0	0	0	0
CBX7	23492	broad.mit.edu	37	22	39530549	39530549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:39530549G>C	uc003axb.2	-	5	544	c.455C>G	c.(454-456)TCG>TGG	p.S152W	CBX7_uc003axc.2_Intron	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701		NA											6	20					0	0	0	0
ADSL	158	broad.mit.edu	37	22	40745953	40745953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:40745953C>G	uc003ayp.3	+	2	330	c.271C>G	c.(271-273)CAC>GAC	p.H91D	ADSL_uc003ays.3_Missense_Mutation_p.H91D|ADSL_uc003ayq.3_Missense_Mutation_p.H91D|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H91D	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						TGTGATGGCTCACGTGCACAC	0.468		NA											4	74					0	0	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738568	41738568	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:41738568C>T	uc003azw.2	+	12	1449	c.1233C>T	c.(1231-1233)ATC>ATT	p.I411I	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	427					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CCTTGCTCATCAAGAACCCCT	0.602		NA											4	47					0	0	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272287	43272287	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:43272287C>G	uc010gzg.2	-	10	1426	c.1204G>C	c.(1204-1206)GAG>CAG	p.E402Q	PACSIN2_uc003bdg.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bde.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bdf.3_Missense_Mutation_p.E361Q	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	402					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				TTGTTAGACTCATCGTCTGAC	0.617		NA											14	51					0	0	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681333	44681334	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681333_44681334TC>AT	uc003bet.2	-	4	706_707	c.573_574GA>AT	c.(571-576)CTGATG>CTATTG	p.M192L		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	192	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAAGGTCATCAGCGGTGGGC	0.609		NA											19	71					0	0	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681481	44681481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681481C>T	uc003bet.2	-	4	559	c.426G>A	c.(424-426)ATG>ATA	p.M142I		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	142	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCCTGTTTCATCCATCGTC	0.652		NA											36	95					0	0	0	0
GTSE1	51512	broad.mit.edu	37	22	46704811	46704811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:46704811G>A	uc011aqy.1	+	4	945	c.733G>A	c.(733-735)GGA>AGA	p.G245R	GTSE1_uc011aqz.1_Missense_Mutation_p.G92R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGTTAGAGGAAGAAGCAT	0.612		NA											20	71					0	0	0	0
SELO	83642	broad.mit.edu	37	22	50654234	50654234	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50654234G>A	uc011arr.1	+	6	1498	c.1440G>A	c.(1438-1440)CTG>CTA	p.L480L	SELO_uc010hap.2_Silent_p.L291L|SELO_uc003bjy.2_Silent_p.L160L|SELO_uc003bjz.2_Missense_Mutation_p.D233N	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	480											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCAGGCTGATGGAGCAGT	0.587		NA											31	63					0	0	0	0
SAPS2	9701	broad.mit.edu	37	22	50845240	50845240	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50845240A>G	uc003blb.1	+	5	772	c.350A>G	c.(349-351)AAT>AGT	p.N117S	SAPS2_uc003bky.1_Missense_Mutation_p.N117S|SAPS2_uc003bkz.1_Missense_Mutation_p.N117S|SAPS2_uc003blc.2_Missense_Mutation_p.N117S|SAPS2_uc003bla.1_Missense_Mutation_p.N117S	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	117						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CCGCCTCTCAATCCTCTGCTC	0.547		NA											88	257					0	0	0	0
SETD5	55209	broad.mit.edu	37	3	9517533	9517533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9517533C>T	uc003brt.2	+	23	4522	c.4087C>T	c.(4087-4089)CAG>TAG	p.Q1363*	SETD5_uc003bru.2_Nonsense_Mutation_p.Q1265*|SETD5_uc003brv.2_Nonsense_Mutation_p.Q1252*|SETD5_uc010hck.2_Nonsense_Mutation_p.Q845*|SETD5_uc003brx.2_Nonsense_Mutation_p.Q1032*	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552		NA											19	22					0	0	0	0
CRELD1	78987	broad.mit.edu	37	3	9979762	9979762	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9979762C>T	uc003bug.2	+	5	550	c.432C>T	c.(430-432)CCC>CCT	p.P144P	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.P144P|CRELD1_uc003buh.2_Silent_p.P144P|CRELD1_uc003bui.2_Silent_p.P144P|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	144	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						TCTGCTGCCCCGCAGGCACCT	0.552		NA											5	20					0	0	0	0
METTL6	131965	broad.mit.edu	37	3	15467880	15467880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:15467880G>C	uc003bzs.1	-	2	397	c.139C>G	c.(139-141)CTT>GTT	p.L47V	METTL6_uc011avp.1_Missense_Mutation_p.L47V|METTL6_uc003bzt.1_Missense_Mutation_p.L47V|EAF1_uc003bzu.2_5'Flank|EAF1_uc011avq.1_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	47							methyltransferase activity				0						TTGTAAAAAAGATCCCAATTT	0.373		NA											14	43					0	0	0	0
EFHB	151651	broad.mit.edu	37	3	19924047	19924047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:19924047C>G	uc003cbl.3	-	12	2519	c.2323G>C	c.(2323-2325)GAA>CAA	p.E775Q	EFHB_uc003cbm.2_Missense_Mutation_p.E645Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	775					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TATACCTCTTCTTTTGATCTG	0.299		NA											3	9					0	0	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:30691947C>G	uc003ceo.2	+	3	831	c.449C>G	c.(448-450)TCA>TGA	p.S150*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.S175*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	150	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						ATCATCTTCTCAGAAGGTGAG	0.433		NA											17	42					0	0	0	0
TRANK1	9881	broad.mit.edu	37	3	36897603	36897603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:36897603C>G	uc003cgj.2	-	3	2130	c.1828G>C	c.(1828-1830)GAG>CAG	p.E610Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1160					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTTTGTACCTCCTGGCACAGC	0.502		NA											8	117					0	0	0	0
XIRP1	165904	broad.mit.edu	37	3	39228635	39228635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:39228635C>T	uc003cjk.1	-	2	2523	c.2302G>A	c.(2302-2304)GAG>AAG	p.E768K	XIRP1_uc003cji.2_Missense_Mutation_p.E768K|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	768							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGCAGTCTCCTGGCTCTCT	0.642		NA											11	28					0	0	0	0
NKTR	4820	broad.mit.edu	37	3	42680839	42680839	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680839G>C	uc003clo.2	+	13	3790	c.3643G>C	c.(3643-3645)GAG>CAG	p.E1215Q	NKTR_uc003clm.1_Missense_Mutation_p.E962Q|NKTR_uc003clp.2_Missense_Mutation_p.E962Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1105Q|NKTR_uc003clr.1_Missense_Mutation_p.E962Q|NKTR_uc003cls.2_Missense_Mutation_p.E915Q	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1215					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGGTGGCTGAGAAGAGCCA	0.527		NA											21	43					0	0	0	0
NKTR	4820	broad.mit.edu	37	3	42680982	42680982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680982G>C	uc003clo.2	+	13	3933	c.3786G>C	c.(3784-3786)TTG>TTC	p.L1262F	NKTR_uc003clm.1_Missense_Mutation_p.L1009F|NKTR_uc003clp.2_Missense_Mutation_p.L1009F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.L1152F|NKTR_uc003clr.1_Missense_Mutation_p.L1009F|NKTR_uc003cls.2_Missense_Mutation_p.L962F	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1262					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAAGGCTTGAGAATAGAAA	0.453		NA											27	42					0	0	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48789027	48789027	+	Silent	SNP	G	G	A	rs143784793	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:48789027G>A	uc010hki.1	-	11	1447	c.1206C>T	c.(1204-1206)CTC>CTT	p.L402L	PRKAR2A_uc003cux.1_Silent_p.L402L|PRKAR2A_uc003cuy.1_Silent_p.L380L	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	402	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTACTGCCCGAGGTTGCCCA	0.522		NA											13	14					0	0	0	0
BSN	8927	broad.mit.edu	37	3	49702266	49702266	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:49702266C>T	uc003cxe.3	+	10	11889	c.11775C>T	c.(11773-11775)TTC>TTT	p.F3925F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3925				F -> L (in Ref. 1; AAC83555).	synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTTCCTCATTCTGGTGACCAT	0.557		NA											30	69					0	0	0	0
DNAH1	25981	broad.mit.edu	37	3	52382931	52382931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:52382931G>A	uc011bef.1	+	13	2395	c.2134G>A	c.(2134-2136)GGT>AGT	p.G712S	DNAH1_uc003ddt.1_Missense_Mutation_p.G712S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCATCAGCGGTGACCCCCT	0.617		NA											6	78					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97887885	97887885	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:97887885C>G	uc011bgu.1	+	1	342	c.342C>G	c.(340-342)CTC>CTG	p.L114L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AATGTTTTCTCTTGGCAACAA	0.378		NA											35	122					0	0	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518364	98518364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:98518364G>A	uc003dtd.2	-	16	2543	c.2180C>T	c.(2179-2181)TCA>TTA	p.S727L	DCBLD2_uc003dte.2_Missense_Mutation_p.S741L	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	727	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GGCCTGGGCTGAGGAGCAGCT	0.557		NA											68	233					0	0	0	0
FILIP1L	11259	broad.mit.edu	37	3	99649833	99649833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99649833G>A	uc003dtm.2	-	2	495	c.32C>T	c.(31-33)TCA>TTA	p.S11L	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.S11L|uc003dtq.2_5'Flank	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	11						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTTTTGGGCTGAGCCCTCGGT	0.433		NA											9	44					0	0	0	0
C3orf26	84319	broad.mit.edu	37	3	99881149	99881149	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99881149G>A	uc003dtl.2	+	4	371	c.228G>A	c.(226-228)AAG>AAA	p.K76K		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	76							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TATCTTAGAAGAAAATTACTG	0.383		NA											6	51					0	0	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572517	101572517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:101572517G>A	uc003dvp.2	+	5	1262	c.1147G>A	c.(1147-1149)GAG>AAG	p.E383K	NFKBIZ_uc003dvo.2_Missense_Mutation_p.E283K|NFKBIZ_uc010hpo.2_Missense_Mutation_p.E283K|NFKBIZ_uc003dvq.2_Missense_Mutation_p.E261K	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	383	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						CAGCGCCTGTGAGGCCATGGT	0.493		NA											21	124					0	0	0	0
CCDC80	151887	broad.mit.edu	37	3	112358405	112358405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:112358405C>T	uc003dzf.2	-	2	566	c.348G>A	c.(346-348)GAG>GAA	p.E116E	CCDC80_uc011bhv.1_Silent_p.E116E|CCDC80_uc003dzg.2_Silent_p.E116E|CCDC80_uc003dzh.1_Silent_p.E116E	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	116										ovary(2)	2						CTCTGATCATCTCACGCGGAG	0.602		NA											27	108					0	0	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753906	113753906	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:113753906C>G	uc003eax.2	-	6	831	c.684G>C	c.(682-684)CAG>CAC	p.Q228H	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q206H|KIAA1407_uc011bip.1_Missense_Mutation_p.Q215H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	228	Potential.									ovary(2)	2						GCACCAGACACTGAGCCTCCA	0.448		NA											21	120					0	0	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499990	120499990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:120499990G>C	uc003edz.3	+	5	1107	c.993G>C	c.(991-993)AAG>AAC	p.K331N		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	331					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		ACGAGAAAAAGACTTCCTCTG	0.547		NA											9	63					0	0	0	0
KPNA1	3836	broad.mit.edu	37	3	122170899	122170899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:122170899G>C	uc003efd.1	-	7	613	c.577C>G	c.(577-579)CTT>GTT	p.L193V	KPNA1_uc003efb.1_5'UTR|KPNA1_uc003efc.1_5'UTR|KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.L193V	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	193	ARM 3.|NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGCCAAGAGCCCAGACT	0.398		NA											42	176					0	0	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879726	125879726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:125879726G>C	uc003eim.1	-	2	287	c.97C>G	c.(97-99)CCA>GCA	p.P33A	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.P33A|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	33	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGTCTGGAACAGTGAAC	0.572		NA											15	117					0	0	0	0
MCM2	4171	broad.mit.edu	37	3	127327234	127327234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:127327234C>T	uc003ejp.2	+	7	1168	c.1111C>T	c.(1111-1113)CAG>TAG	p.Q371*	MCM2_uc011bkm.1_Nonsense_Mutation_p.Q241*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.Q255*	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	371					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						GACCATCTATCAGAACTACCA	0.572		NA											68	229					0	0	0	0
TMEM108	66000	broad.mit.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:133109176G>A	uc003eph.2	+	5	1877	c.1603G>A	c.(1603-1605)GAG>AAG	p.E535K	TMEM108_uc003epi.2_Missense_Mutation_p.E535K|TMEM108_uc003epk.2_Missense_Mutation_p.E65K|TMEM108_uc003epm.2_Missense_Mutation_p.E486K	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	535	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(2)	4						TGAAACCTCTGAGGTAATGAG	0.493		NA											43	227					0	0	0	0
TRPC1	7220	broad.mit.edu	37	3	142443489	142443489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:142443489G>A	uc003evc.2	+	1	224	c.88G>A	c.(88-90)GAG>AAG	p.E30K	TRPC1_uc003evb.2_Missense_Mutation_p.E30K	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	30	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ctcGCCGAACGAGGTGATGGC	0.493		NA											12	65					0	0	0	0
SELT	51714	broad.mit.edu	37	3	150321201	150321201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:150321201G>C	uc011bnx.1	+	1	136	c.52G>C	c.(52-54)GAG>CAG	p.E18Q	SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank	NM_016275	NP_057359	P62341	SELT_HUMAN	selenoprotein T precursor	18				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCGGAGCGAGGCCTCGGC	0.602		NA											7	29					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155200497	155200497	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:155200497C>T	uc011bok.1	-	23	3619	c.3342G>A	c.(3340-3342)GAG>GAA	p.E1114E	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.E1076E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1114					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCACAAAGTCCTCAGGATTAC	0.478		NA											28	112					0	0	0	0
VEPH1	79674	broad.mit.edu	37	3	157188282	157188282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157188282C>T	uc003fbj.1	-	3	492	c.175G>A	c.(175-177)GAA>AAA	p.E59K	VEPH1_uc003fbk.1_Missense_Mutation_p.E59K|VEPH1_uc010hvu.1_Missense_Mutation_p.E59K|VEPH1_uc003fbm.2_Missense_Mutation_p.E59K|VEPH1_uc003fbn.2_Missense_Mutation_p.E59K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	59						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATACAGATTTCAACTACTGCC	0.408		NA											30	121					0	0	0	0
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157920866G>A	uc003fbt.2	+	4	437	c.326G>A	c.(325-327)AGG>AAG	p.R109K	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R109K|RSRC1_uc003fbv.2_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393		NA											4	45					0	0	0	0
SMC4	10051	broad.mit.edu	37	3	160137327	160137327	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:160137327G>T	uc003fdh.2	+	12	1966	c.1853G>T	c.(1852-1854)AGA>ATA	p.R618I	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R382I|SMC4_uc003fdi.2_Missense_Mutation_p.R593I|SMC4_uc003fdj.2_Missense_Mutation_p.R618I|SMC4_uc010hwd.2_Missense_Mutation_p.R618I|SMC4_uc003fdl.2_Missense_Mutation_p.R321I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	618	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATATGGAAGATTGGTAAAG	0.353		NA											7	65					8.13e-05	8.47e-05	1	0
GPR160	26996	broad.mit.edu	37	3	169802027	169802027	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:169802027C>T	uc003fgi.2	+	4	857	c.267C>T	c.(265-267)TTC>TTT	p.F89F	GPR160_uc010hwq.2_Silent_p.F89F	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	89	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCATTAGGTTCACTAAATACC	0.303		NA											8	82					0	0	0	0
MRPL47	57129	broad.mit.edu	37	3	179306692	179306692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:179306692G>C	uc003fjz.2	-	7	743	c.721C>G	c.(721-723)CTT>GTT	p.L241V	MRPL47_uc003fka.2_Missense_Mutation_p.L131V|MRPL47_uc003fkb.2_Missense_Mutation_p.L221V	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	241					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCTTCAGCAAGATGTGGAAAC	0.343		NA											13	165					0	0	0	0
FXR1	8087	broad.mit.edu	37	3	180685868	180685868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:180685868G>A	uc003fkq.2	+	14	1250	c.1228G>A	c.(1228-1230)GAA>AAA	p.E410K	FXR1_uc003fkp.2_Missense_Mutation_p.E325K|FXR1_uc003fkr.2_Missense_Mutation_p.E410K|FXR1_uc011bqj.1_Missense_Mutation_p.E324K|FXR1_uc003fks.2_Missense_Mutation_p.E353K|FXR1_uc011bqk.1_Missense_Mutation_p.E361K|FXR1_uc011bql.1_Missense_Mutation_p.E397K	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	410					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAACCCCTCTGAAACGGAATC	0.428		NA											24	161					0	0	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:182897459C>G	uc003fli.1	-	29	3217	c.3127G>C	c.(3127-3129)GAC>CAC	p.D1043H		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587		NA											22	225					0	0	0	0
AP2M1	1173	broad.mit.edu	37	3	183900581	183900581	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:183900581C>T	uc011bqx.1	+	11	1255	c.1098C>T	c.(1096-1098)ATC>ATT	p.I366I	AP2M1_uc003fmw.2_Silent_p.I364I|AP2M1_uc003fmx.2_Silent_p.I294I|AP2M1_uc003fmy.2_Silent_p.I364I|AP2M1_uc011bqy.1_Silent_p.I236I|AP2M1_uc011bqz.1_Silent_p.I182I	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	366	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCAGATCAGCGCAGAGA	0.542		NA											17	93					0	0	0	0
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186338532G>C	uc003fqk.3	+	7	998	c.917G>C	c.(916-918)GGA>GCA	p.G306A	AHSG_uc003fql.3_Missense_Mutation_p.G307A|AHSG_uc003fqm.3_Missense_Mutation_p.G305A|AHSG_uc010hyp.2_Missense_Mutation_p.G269A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632		NA											105	167					0	0	0	0
HRG	3273	broad.mit.edu	37	3	186395631	186395631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186395631C>T	uc003fqq.2	+	7	1560	c.1537C>T	c.(1537-1539)CCA>TCA	p.P513S		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	513					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGTGGGTTTCCACAAGTTTC	0.363		NA											33	88					0	0	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:189681803C>T	uc011bsk.1	-	14	2366	c.1978G>A	c.(1978-1980)GGA>AGA	p.G660R	LEPREL1_uc003fsg.2_Missense_Mutation_p.G479R	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493		NA											26	151					0	0	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:193185208C>G	uc003ftd.2	-	10	1119	c.1011G>C	c.(1009-1011)CAG>CAC	p.Q337H	ATP13A4_uc003fte.1_Missense_Mutation_p.Q337H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.Q43H	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCGCTTCACTCTGTGTTTTCC	0.502		NA											19	163					0	0	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152469	194152469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194152469G>A	uc003fty.3	-	21	2800	c.2398C>T	c.(2398-2400)CAT>TAT	p.H800Y	ATP13A3_uc003ftz.1_Missense_Mutation_p.H506Y	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCTGATGGATGACTGCACTGC	0.388		NA											10	45					0	0	0	0
TMEM44	93109	broad.mit.edu	37	3	194309351	194309351	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194309351C>G	uc010hzn.2	-	11	1504	c.1335G>C	c.(1333-1335)GTG>GTC	p.V445V	TMEM44_uc010hzm.2_Nonstop_Mutation_p.*120S|TMEM44_uc003fuc.2_Silent_p.V130V|TMEM44_uc003fue.2_Silent_p.V398V|TMEM44_uc003fud.2_Silent_p.V409V|TMEM44_uc003fuf.2_Nonstop_Mutation_p.*397S|TMEM44_uc011bsv.1_Silent_p.V408V|uc003fug.2_5'Flank	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	445	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTCGAGGTTCACATCTTCAG	0.498		NA											10	235					0	0	0	0
MUC4	4585	broad.mit.edu	37	3	195515905	195515905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195515905G>A	uc011bto.1	-	2	3006	c.2546C>T	c.(2545-2547)TCC>TTC	p.S849F	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S731F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	854	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGAGGCGGACAGCAATTC	0.557		NA											13	109					0	0	0	0
TNK2	10188	broad.mit.edu	37	3	195595101	195595101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595101C>G	uc003fvu.1	-	12	2566	c.2023G>C	c.(2023-2025)GAG>CAG	p.E675Q	TNK2_uc003fvq.1_Missense_Mutation_p.E82Q|TNK2_uc003fvr.1_Missense_Mutation_p.E200Q|TNK2_uc003fvs.1_Missense_Mutation_p.E707Q|TNK2_uc003fvt.1_Missense_Mutation_p.E753Q|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	675	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGCGCCTGCTCAGGCACAAAG	0.682		NA											10	72					0	0	0	0
TNK2	10188	broad.mit.edu	37	3	195595308	195595308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595308G>C	uc003fvu.1	-	12	2359	c.1816C>G	c.(1816-1818)CAG>GAG	p.Q606E	TNK2_uc003fvq.1_Missense_Mutation_p.Q13E|TNK2_uc003fvr.1_Missense_Mutation_p.Q131E|TNK2_uc003fvs.1_Missense_Mutation_p.Q638E|TNK2_uc003fvt.1_Missense_Mutation_p.Q684E|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	606	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGGGGCTCTGAGGCGGGGTC	0.766		NA											11	22					0	0	0	0
LRRC33	375387	broad.mit.edu	37	3	196386869	196386869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196386869G>A	uc003fwv.2	+	3	459	c.355G>A	c.(355-357)GAG>AAG	p.E119K		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	119	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CTGCCTCTCAGAGAACTACGA	0.672		NA											7	51					0	0	0	0
DLG1	1739	broad.mit.edu	37	3	196792287	196792287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196792287C>T	uc003fxo.3	-	23	2456	c.2266G>A	c.(2266-2268)GAT>AAT	p.D756N	DLG1_uc011bub.1_Missense_Mutation_p.D652N|DLG1_uc011buc.1_Missense_Mutation_p.D640N|DLG1_uc011bud.1_Missense_Mutation_p.D439N|DLG1_uc003fxn.3_Missense_Mutation_p.D778N|DLG1_uc011bue.1_Missense_Mutation_p.D744N|DLG1_uc010ial.2_Missense_Mutation_p.D756N	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	756	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCTTCCATCTACCTCATAA	0.303		NA											7	135					0	0	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427616	197427616	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:197427616C>G	uc003fyc.2	-	7	1312	c.1129G>C	c.(1129-1131)GAG>CAG	p.E377Q	KIAA0226_uc003fyd.3_Missense_Mutation_p.E317Q|KIAA0226_uc003fye.1_Missense_Mutation_p.E84Q|KIAA0226_uc003fyf.2_Missense_Mutation_p.E210Q|KIAA0226_uc003fyg.2_Missense_Mutation_p.E370Q	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	377	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGCTGGCTCTCCCCACCTCCT	0.577		NA											35	76					0	0	0	0
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:39448239G>A	uc003gua.2	+	4	1990	c.1893G>A	c.(1891-1893)CTG>CTA	p.L631L	KLB_uc011byj.1_Silent_p.L622L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	631	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GTGAGGGGCTGAAGCTTGGCA	0.627		NA											27	54					0	0	0	0
NSUN7	79730	broad.mit.edu	37	4	40752778	40752778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752778C>A	uc003gvj.3	+	2	563	c.68C>A	c.(67-69)ACT>AAT	p.T23N	NSUN7_uc003gvh.2_Missense_Mutation_p.T23N|NSUN7_uc003gvi.3_Missense_Mutation_p.T23N	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TCCCAACTCACTTCCCTGCCT	0.547		NA											29	70					2.66e-16	2.89e-16	1	0
NSUN7	79730	broad.mit.edu	37	4	40752873	40752873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752873C>G	uc003gvj.3	+	2	658	c.163C>G	c.(163-165)CAG>GAG	p.Q55E	NSUN7_uc003gvh.2_Missense_Mutation_p.Q55E|NSUN7_uc003gvi.3_Missense_Mutation_p.Q55E	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						CAACATTTTTCAGGGTATTCG	0.512		NA											40	94					0	0	0	0
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:52861814G>C	uc003gzi.2	-	4	1387	c.1374C>G	c.(1372-1374)TTC>TTG	p.F458L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GTGTCACCCAGAAAGGGGTCT	0.562		NA											26	72					0	0	0	0
ODAM	54959	broad.mit.edu	37	4	71068032	71068032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71068032G>A	uc003hfc.2	+	8	651	c.634G>A	c.(634-636)GAA>AAA	p.E212K		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	212					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						CACAGCTCCTGAAATTGCTGT	0.373		NA											12	34					0	0	0	0
ENAM	10117	broad.mit.edu	37	4	71508617	71508617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508617G>A	uc011caw.1	+	9	1755	c.1474G>A	c.(1474-1476)GAA>AAA	p.E492K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	492					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TGATCAACATGAAAACTCCTA	0.378		NA											7	30					0	0	0	0
RUFY3	22902	broad.mit.edu	37	4	71660553	71660554	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660553_71660554GA>AT	uc003hfr.2	+	14	2094_2095	c.1499_1500GA>AT	c.(1498-1500)AGA>AAT	p.R500N	RUFY3_uc011cay.1_Missense_Mutation_p.R436N	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	335	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			AAAGAAAGAAGATTACAAAACG	0.371		NA											6	90					0	0	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73280574C>G	uc003hgk.1	-	4	656	c.619G>C	c.(619-621)GAA>CAA	p.E207Q		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363		NA											21	52					0	0	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73957704G>A	uc003hgp.2	-	29	5758	c.5641C>T	c.(5641-5643)CTT>TTT	p.L1881F	ANKRD17_uc003hgo.2_Missense_Mutation_p.L1768F|ANKRD17_uc003hgq.2_Missense_Mutation_p.L1630F|ANKRD17_uc003hgr.2_Missense_Mutation_p.L1880F	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1881					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483		NA											21	116					0	0	0	0
AFM	173	broad.mit.edu	37	4	74361120	74361120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:74361120G>A	uc003hhb.2	+	9	1193	c.1162G>A	c.(1162-1164)GAA>AAA	p.E388K		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	388	Albumin 2.				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)			CTGCAACACAGAAAACCCTCC	0.363		NA											15	44					0	0	0	0
CCNG2	901	broad.mit.edu	37	4	78079754	78079754	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:78079754C>G	uc003hkq.3	+	2	372	c.69C>G	c.(67-69)GTC>GTG	p.V23V	CCNG2_uc003hkn.3_Silent_p.V23V|CCNG2_uc011ccc.1_Silent_p.V23V|CCNG2_uc003hkp.3_Silent_p.V23V	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	cyclin G2	23					cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3						TGTTGAACGTCTACCTGGAAC	0.478		NA											28	87					0	0	0	0
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:79455676C>T	uc003hlb.2	+	71	11439	c.10999C>T	c.(10999-11001)CAG>TAG	p.Q3667*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CACTGAATTTCAGCTCTGCAA	0.418		NA											28	120					0	0	0	0
LIN54	132660	broad.mit.edu	37	4	83858440	83858440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83858440G>A	uc003hnx.3	-	9	1922	c.1544C>T	c.(1543-1545)TCA>TTA	p.S515L	LIN54_uc003hnz.3_Missense_Mutation_p.S294L|LIN54_uc003hny.3_Missense_Mutation_p.S114L|LIN54_uc010ijt.2_Missense_Mutation_p.S426L|LIN54_uc010iju.2_Missense_Mutation_p.S114L|LIN54_uc010ijv.2_Missense_Mutation_p.S294L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	515					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				GGCCGACTCTGATGGGATTAT	0.289		NA											13	54					0	0	0	0
LIN54	132660	broad.mit.edu	37	4	83859644	83859644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83859644G>A	uc003hnx.3	-	8	1832	c.1454C>T	c.(1453-1455)TCA>TTA	p.S485L	LIN54_uc003hnz.3_Missense_Mutation_p.S264L|LIN54_uc003hny.3_Missense_Mutation_p.S84L|LIN54_uc010ijt.2_Missense_Mutation_p.S396L|LIN54_uc010iju.2_Missense_Mutation_p.S84L|LIN54_uc010ijv.2_Missense_Mutation_p.S264L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	485					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TGATACATATGAAGACTGCTG	0.353		NA											4	55					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85672736	85672736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:85672736G>C	uc003hpd.2	-	36	6281	c.5873C>G	c.(5872-5874)GCT>GGT	p.A1958G		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1958						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTTTTAGCCGGGTGATT	0.458		NA											38	91					0	0	0	0
PAPSS1	9061	broad.mit.edu	37	4	108578142	108578142	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:108578142C>T	uc003hyk.2	-	7	889	c.805G>A	c.(805-807)GTT>ATT	p.V269I	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	269	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGCCAAAACCTGCACCCAC	0.393		NA											11	74					0	0	0	0
TNIP3	79931	broad.mit.edu	37	4	122078303	122078303	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:122078303C>T	uc010ing.2	-	4	505	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	TNIP3_uc010inh.2_Silent_p.Q103Q|TNIP3_uc011cgj.1_Silent_p.Q161Q|TNIP3_uc010ini.2_Silent_p.Q103Q	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	103	Potential.									ovary(1)	1						CGTCCTCTCTCTGCCTGTCGT	0.642		NA											111	275					0	0	0	0
LRBA	987	broad.mit.edu	37	4	151773393	151773393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:151773393G>A	uc010ipj.2	-	23	3943	c.3469C>T	c.(3469-3471)CAA>TAA	p.Q1157*	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q1157*	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1157						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTCCTTCTTGAAATATTAAT	0.383		NA											21	66					0	0	0	0
TIGD4	201798	broad.mit.edu	37	4	153692046	153692046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:153692046C>G	uc003imy.2	-	2	893	c.111G>C	c.(109-111)AAG>AAC	p.K37N		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	37	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					CTGCTTTTTTCTTGCCACTTT	0.358		NA											29	55					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155278412	155278412	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:155278412C>G	uc003inw.2	-	6	759	c.759G>C	c.(757-759)ATG>ATC	p.M253I	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctaaactgttcattacttcct	0		NA											30	102					0	0	0	0
GRIA2	2891	broad.mit.edu	37	4	158224904	158224904	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:158224904C>A	uc003ipm.3	+	3	889	c.430C>A	c.(430-432)CAA>AAA	p.Q144K	GRIA2_uc011cit.1_Missense_Mutation_p.Q97K|GRIA2_uc003ipl.3_Missense_Mutation_p.Q144K|GRIA2_uc003ipk.3_Missense_Mutation_p.Q97K|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	144	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAATACTATCAATGGGACAA	0.443		NA											33	106					1.08e-15	1.17e-15	1	0
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159791564C>T	uc003iqe.3	+	14	3075	c.2892C>T	c.(2890-2892)ACC>ACT	p.T964T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.552		NA											16	31					0	0	0	0
C4orf45	152940	broad.mit.edu	37	4	159836377	159836377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159836377G>A	uc003iqf.1	-	4	576	c.491C>T	c.(490-492)TCA>TTA	p.S164L	C4orf45_uc010iqt.1_RNA	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	hypothetical protein LOC152940	164											0						TCTTGGCAATGATGACTTACA	0.423		NA											12	24					0	0	0	0
NEK1	4750	broad.mit.edu	37	4	170523167	170523167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:170523167G>A	uc003isb.1	-	3	698	c.206C>T	c.(205-207)TCA>TTA	p.S69L	NEK1_uc003isc.1_Missense_Mutation_p.S69L|NEK1_uc003isd.1_Missense_Mutation_p.S69L|NEK1_uc003ise.1_Missense_Mutation_p.S69L|NEK1_uc003isf.1_Missense_Mutation_p.S69L|NEK1_uc003isg.1_5'Flank	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	69	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTTCAAATGATTCTCTATA	0.328		NA											13	75					0	0	0	0
HMGB2	3148	broad.mit.edu	37	4	174254786	174254786	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:174254786G>A	uc011ckc.1	-	1	135	c.15C>T	c.(13-15)GAC>GAT	p.D5D	HMGB2_uc003ita.3_Silent_p.D5D|HMGB2_uc003itb.2_Silent_p.D5D|HMGB2_uc003itc.2_Silent_p.D5D	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	5					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCTTGTTGGGGTCTCCTTTAC	0.642		NA											4	64					0	0	0	0
AHRR	57491	broad.mit.edu	37	5	434023	434023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:434023C>T	uc003jav.2	+	12	1278	c.1234C>T	c.(1234-1236)CGG>TGG	p.R412W	AHRR_uc003jaw.2_Missense_Mutation_p.R390W|AHRR_uc010isy.2_Missense_Mutation_p.R240W|AHRR_uc010isz.2_Missense_Mutation_p.R390W|AHRR_uc003jax.2_Missense_Mutation_p.R153W|AHRR_uc003jay.2_Missense_Mutation_p.R250W|AHRR_uc003jaz.2_Missense_Mutation_p.R11W	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTGACAGGGCGGAGGGAGAC	0.632		NA											5	37					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306808	5306808	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:5306808G>A	uc003jdl.2	+	21	3516	c.3378G>A	c.(3376-3378)TCG>TCA	p.S1126S		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGGACCCTCGAGGGGCAGCT	0.672		NA											4	34					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24511615	24511615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:24511615G>C	uc003jgr.1	-	6	1155	c.823C>G	c.(823-825)CAT>GAT	p.H275D	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	275	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACTCGAAGATGAATAGTGTCT	0.279		NA								HNSCC(23;0.051)			7	28					0	0	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:36686317G>A	uc003jkj.3	+	10	2051	c.1575G>A	c.(1573-1575)CTG>CTA	p.L525L	SLC1A3_uc011cox.1_Silent_p.L418L|SLC1A3_uc010iuy.2_Silent_p.L480L	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	525					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATATCAACTGATTGCACAGG	0.393		NA											27	185					0	0	0	0
NUP155	9631	broad.mit.edu	37	5	37307413	37307413	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:37307413C>G	uc003jku.1	-	25	3007	c.2889G>C	c.(2887-2889)CAG>CAC	p.Q963H	NUP155_uc003jkt.1_Missense_Mutation_p.Q904H|NUP155_uc010iuz.1_Missense_Mutation_p.Q899H	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	963					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGGAAGGCCTGAAGTCCAA	0.348		NA											12	65					0	0	0	0
LIFR	3977	broad.mit.edu	37	5	38481936	38481936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:38481936C>G	uc010ive.1	-	20	3387	c.3055G>C	c.(3055-3057)GAA>CAA	p.E1019Q	LIFR_uc003jli.2_Missense_Mutation_p.E1019Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	1019	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					AAGTCCTCTTCTGCAGCTATA	0.443		NA	T	PLAG1	salivary adenoma								20	99					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41057214	41057214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:41057214G>C	uc003jmj.3	-	9	1406	c.916C>G	c.(916-918)CTA>GTA	p.L306V	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	306	HEAT 3.						binding			ovary(6)|central_nervous_system(2)	8						GTCCTACCTAGAATGAGAAAA	0.413		NA											10	44					0	0	0	0
PARP8	79668	broad.mit.edu	37	5	50118221	50118221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:50118221G>A	uc003jon.3	+	18	2029	c.1847G>A	c.(1846-1848)AGA>AAA	p.R616K	PARP8_uc011cpz.1_Missense_Mutation_p.R508K|PARP8_uc003joo.2_Missense_Mutation_p.R616K|PARP8_uc003jop.2_Missense_Mutation_p.R574K	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	616						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTTCTATCAGAGAAATGACA	0.308		NA											18	96					0	0	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64558671	64558671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:64558671G>A	uc003jtp.2	-	13	2553	c.1739C>T	c.(1738-1740)TCA>TTA	p.S580L	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.S201L	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	580	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCTTAGGGATGAGGAGACGCC	0.537		NA											7	12					0	0	0	0
BDP1	55814	broad.mit.edu	37	5	70786860	70786860	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:70786860G>A	uc003kbp.1	+	11	1805	c.1542G>A	c.(1540-1542)AAG>AAA	p.K514K	BDP1_uc003kbn.1_Silent_p.K514K|BDP1_uc003kbo.2_Silent_p.K514K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	514					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGCAGTAAGGAGCAGATGC	0.383		NA											7	34					0	0	0	0
MAP1B	4131	broad.mit.edu	37	5	71494026	71494026	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:71494026G>C	uc003kbw.3	+	5	5085	c.4844G>C	c.(4843-4845)AGA>ACA	p.R1615T	MAP1B_uc010iyw.1_Missense_Mutation_p.R1632T|MAP1B_uc010iyx.1_Missense_Mutation_p.R1489T|MAP1B_uc010iyy.1_Missense_Mutation_p.R1489T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1615						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATGCCCAAGACCGATGTCA	0.438		NA											9	107					0	0	0	0
CMYA5	202333	broad.mit.edu	37	5	79029812	79029812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:79029812C>T	uc003kgc.2	+	2	5296	c.5224C>T	c.(5224-5226)CAG>TAG	p.Q1742*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1742						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAATTTCAGCCATTTAC	0.423		NA											11	45					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90074289	90074289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90074289C>T	uc003kju.2	+	63	12808	c.12712C>T	c.(12712-12714)CAG>TAG	p.Q4238*	GPR98_uc003kjt.2_Nonsense_Mutation_p.Q1944*|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4238	Extracellular (Potential).|Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATGAGTTTCAGCTCACTGC	0.468		NA											7	20					0	0	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90670857C>T	uc003kjz.2	-	5	992	c.752G>A	c.(751-753)CGT>CAT	p.R251H		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468		NA											13	66					0	0	0	0
YTHDC2	64848	broad.mit.edu	37	5	112851047	112851047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112851047C>T	uc003kqn.2	+	2	449	c.266C>T	c.(265-267)TCT>TTT	p.S89F	YTHDC2_uc010jce.1_Missense_Mutation_p.S89F|YTHDC2_uc010jcf.1_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	89	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTGGTCTCTAAAAGTAAA	0.333		NA											15	63					0	0	0	0
YTHDC2	64848	broad.mit.edu	37	5	112871369	112871369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112871369G>A	uc003kqn.2	+	7	1159	c.976G>A	c.(976-978)GAT>AAT	p.D326N	YTHDC2_uc010jce.1_Missense_Mutation_p.D326N|YTHDC2_uc010jcf.1_Missense_Mutation_p.D26N	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	326	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCGATTTAGTGATTTTTTACT	0.303		NA											13	48					0	0	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889016	112889016	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112889016C>T	uc003kqn.2	+	13	2010	c.1827C>T	c.(1825-1827)ATC>ATT	p.I609I	YTHDC2_uc010jce.1_Silent_p.I609I|YTHDC2_uc010jcf.1_Silent_p.I309I	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	609							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATTTGATCATGCATCTTC	0.343		NA											9	21					0	0	0	0
ZNF474	133923	broad.mit.edu	37	5	121488078	121488078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:121488078G>C	uc003ksv.2	+	2	769	c.393G>C	c.(391-393)TTG>TTC	p.L131F		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	131						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAAGCATTTGAGGAGGCCAG	0.517		NA											31	78					0	0	0	0
ZNF608	57507	broad.mit.edu	37	5	123984351	123984351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:123984351G>A	uc003ktq.1	-	4	1849	c.1726C>T	c.(1726-1728)CAT>TAT	p.H576Y	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.H576Y|ZNF608_uc003ktt.1_Missense_Mutation_p.H576Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	576	C2H2-type.					intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAGTGTGCATGAGCCTGGTGG	0.493		NA											28	89					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127599217	127599217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:127599217C>G	uc003kuu.2	-	63	8531	c.8092G>C	c.(8092-8094)GAG>CAG	p.E2698Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2698	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGAGCACTCATTCACGTCG	0.602		NA											43	127					0	0	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671648	131671648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131671648G>T	uc003kwq.2	+	8	1564	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	467	Helical; Name=11; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CACATCCACGGCCTCCAGAGT	0.483		NA											15	134					2e-07	2.12e-07	1	0
IRF1	3659	broad.mit.edu	37	5	131825145	131825145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131825145C>T	uc003kxa.2	-	2	260	c.26G>A	c.(25-27)AGA>AAA	p.R9K	IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.R9K|IRF1_uc010jdt.1_Missense_Mutation_p.R9K	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	9	IRF tryptophan pentad repeat.				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAGCCAGGGTCTCATGCGCAT	0.493		NA											18	54					0	0	0	0
SPOCK1	6695	broad.mit.edu	37	5	136315065	136315065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:136315065C>T	uc003lbo.2	-	9	1276	c.1085G>A	c.(1084-1086)GGG>GAG	p.G362E	SPOCK1_uc003lbp.2_Missense_Mutation_p.G362E	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	362	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACTCATTCCCATATTTGTC	0.587		NA											4	104					0	0	0	0
KLHL3	26249	broad.mit.edu	37	5	137045500	137045500	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:137045500C>T	uc010jek.2	-	3	624	c.180G>A	c.(178-180)GAG>GAA	p.E60E	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.E20E	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	60	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGCTTCTATCTCGACATCTT	0.537		NA											26	100					0	0	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745591	139745591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:139745591G>A	uc003lfm.2	+	13	1990	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H	SLC4A9_uc003lfj.2_Missense_Mutation_p.R628H|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Missense_Mutation_p.R628H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R614H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	652	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCAGCCGCTTCTTCCCC	0.493		NA											73	198					0	0	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475302	140475302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140475302G>C	uc003lil.2	+	1	1066	c.928G>C	c.(928-930)GAT>CAT	p.D310H	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	310	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAAACTGGATTTCGAATC	0.408		NA											16	49					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530308	140530308	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140530308A>T	uc003lir.2	+	1	470	c.470A>T	c.(469-471)CAC>CTC	p.H157L	PCDHB6_uc011dah.1_Missense_Mutation_p.H21L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	157	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGGCACACGATTTAGAC	0.483		NA											43	156					0	0	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625408	140625408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140625408G>A	uc003lje.2	+	1	262	c.262G>A	c.(262-264)GAG>AAG	p.E88K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	88	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATATTAAATGAGAAGCTGGA	0.512		NA											5	68					0	0	0	0
GNPDA1	10007	broad.mit.edu	37	5	141385711	141385711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:141385711C>G	uc003lmf.3	-	3	1166	c.407G>C	c.(406-408)GGA>GCA	p.G136A	GNPDA1_uc003lmg.3_Missense_Mutation_p.G136A|GNPDA1_uc010jgh.2_Missense_Mutation_p.G136A|GNPDA1_uc003lmh.3_Missense_Mutation_p.G102A	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	136					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCACCTCCAACAAATAG	0.532		NA											25	76					0	0	0	0
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:145651095C>G	uc003lnz.3	+	19	3012	c.2846C>G	c.(2845-2847)TCT>TGT	p.S949C		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478		NA											8	30					0	0	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576346	149576346	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:149576346C>G	uc003lrr.2	+	3	656	c.285C>G	c.(283-285)CTC>CTG	p.L95L		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	95						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTGGAGCTCTCCCTGGGCC	0.642		NA											39	115					0	0	0	0
GALNT10	55568	broad.mit.edu	37	5	153760021	153760021	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:153760021G>A	uc003lvh.2	+	6	900	c.768G>A	c.(766-768)CGG>CGA	p.R256R	GALNT10_uc003lvg.1_Silent_p.R256R|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.R97R	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	256	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCATTGCTCGGAACCGCAAGA	0.512		NA											43	126					0	0	0	0
RNF145	153830	broad.mit.edu	37	5	158585719	158585719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:158585719G>A	uc003lxp.2	-	11	2264	c.1951C>T	c.(1951-1953)CAC>TAC	p.H651Y	RNF145_uc011ddy.1_Missense_Mutation_p.H665Y|RNF145_uc003lxo.1_Missense_Mutation_p.H679Y|RNF145_uc011ddz.1_Missense_Mutation_p.H668Y|RNF145_uc010jiq.1_Missense_Mutation_p.H681Y	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	651						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGCACTGTGAGGATATTCT	0.473		NA											34	159					0	0	0	0
RARS	5917	broad.mit.edu	37	5	167922356	167922356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:167922356G>C	uc003lzx.2	+	6	657	c.616G>C	c.(616-618)GAG>CAG	p.E206Q	RARS_uc011deo.1_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	206	HIGH region.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATAGCTAAAGAGATGCATGT	0.428		NA											3	161					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176562391	176562391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:176562391C>G	uc003mfr.3	+	2	425	c.287C>G	c.(286-288)TCC>TGC	p.S96C	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.S96C|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.S96C|NSD1_uc003mfq.2_Missense_Mutation_p.S96C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	96					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATCAGAATCCTTTCAAGAC	0.438		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			12	47					0	0	0	0
ZFP2	80108	broad.mit.edu	37	5	178358777	178358777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178358777G>C	uc003mjn.1	+	5	972	c.463G>C	c.(463-465)GAG>CAG	p.E155Q	ZFP2_uc010jky.2_Missense_Mutation_p.E155Q|ZFP2_uc010jkx.1_Missense_Mutation_p.E155Q	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATACTGGAGAGAAACCCTA	0.413		NA											17	52					0	0	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178507032C>T	uc003mju.2	+	5	1714	c.1599C>T	c.(1597-1599)TTC>TTT	p.F533F		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383		NA											19	84					0	0	0	0
RIPK1	8737	broad.mit.edu	37	6	3081283	3081283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:3081283G>C	uc010jni.2	+	4	624	c.392G>C	c.(391-393)GGA>GCA	p.G131A	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Missense_Mutation_p.G66A|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Missense_Mutation_p.G131A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	131	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACTTACATGGAAAAGGCGTG	0.368		NA											13	42					0	0	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:12122774G>A	uc003nac.2	+	4	2925	c.2746G>A	c.(2746-2748)GGA>AGA	p.G916R	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	916					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G916R(1)		ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517		NA											12	47					0	0	0	0
MYLIP	29116	broad.mit.edu	37	6	16141928	16141928	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:16141928G>T	uc003nbq.2	+	3	588	c.351G>T	c.(349-351)GTG>GTT	p.V117V	MYLIP_uc003nbr.2_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	117	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGCAGGCAGTGGAACTCAGTG	0.527		NA											9	70					3.1e-07	3.29e-07	1	0
PGBD1	84547	broad.mit.edu	37	6	28251866	28251866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:28251866C>G	uc003nky.2	+	2	646	c.276C>G	c.(274-276)TTC>TTG	p.F92L	PGBD1_uc003nkz.2_Missense_Mutation_p.F92L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	92	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						TGGAGCAGTTCCTGACCATCC	0.537		NA											26	74					0	0	0	0
TRIM39	56658	broad.mit.edu	37	6	30297129	30297129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30297129C>T	uc010jrz.2	+	3	347	c.35C>T	c.(34-36)TCT>TTT	p.S12F	HCG18_uc003npw.2_5'Flank|HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.S12F|TRIM39_uc003nqb.2_Missense_Mutation_p.S12F|TRIM39_uc003nqc.2_Missense_Mutation_p.S12F|TRIM39_uc010jsa.1_Missense_Mutation_p.S12F	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	12					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCTGGGGCCTCTGCAGCCTCT	0.473		NA											50	149					0	0	0	0
KIAA1949	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30647097C>G	uc003nra.2	-	3	1912	c.1681G>C	c.(1681-1683)GAG>CAG	p.E561Q	KIAA1949_uc003nrb.3_Missense_Mutation_p.E561Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	561						cytoplasm|cytoskeleton	actin binding				0						CCCAGCTCCTCCAGTACCGAA	0.627		NA											24	46					0	0	0	0
FKBPL	63943	broad.mit.edu	37	6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097143C>T	uc003nzr.2	-	2	685	c.415G>A	c.(415-417)GAG>AAG	p.E139K	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	139					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GTCCAGCCCTCTGGCGGCCCT	0.562		NA											85	228					0	0	0	0
FKBPL	63943	broad.mit.edu	37	6	32097257	32097257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097257C>A	uc003nzr.2	-	2	571	c.301G>T	c.(301-303)GAT>TAT	p.D101Y	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	101					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						AAGCTCCCATCGGGGCAGTAC	0.517		NA											21	84					1.02e-10	1.09e-10	1	0
PRRT1	80863	broad.mit.edu	37	6	32118683	32118683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32118683C>T	uc003nzt.2	-	2	136	c.20G>A	c.(19-21)GGA>GAA	p.G7E	PRRT1_uc003nzs.2_Missense_Mutation_p.G48E|PRRT1_uc003nzu.2_Intron|PPT2_uc003nzw.2_5'Flank|PPT2_uc003nzx.2_5'Flank|PPT2_uc011dpi.1_5'Flank|PPT2_uc003nzy.1_5'Flank	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	7					response to biotic stimulus	integral to membrane				breast(1)	1						GTCTGGGAGTCCTGGGGGAGG	0.607		NA											5	11					0	0	0	0
ITPR3	3710	broad.mit.edu	37	6	33656530	33656530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33656530C>G	uc011drk.1	+	49	6885	c.6666C>G	c.(6664-6666)TTC>TTG	p.F2222L	ITPR3_uc003oey.2_Missense_Mutation_p.F309L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2222	Helical; (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TTGCCTTCTTCTACCCTTACA	0.612		NA											18	68					0	0	0	0
ZNF76	7629	broad.mit.edu	37	6	35260660	35260660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:35260660G>T	uc003oki.1	+	11	1373	c.1168G>T	c.(1168-1170)GCC>TCC	p.A390S	ZNF76_uc003okj.1_Missense_Mutation_p.A390S	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	390					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCCCAGCCGCCTCTGCAGC	0.617		NA											9	88					2.74e-10	2.94e-10	1	0
C6orf222	389384	broad.mit.edu	37	6	36285134	36285134	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:36285134C>T	uc003oly.2	-	12	2136	c.1958G>A	c.(1957-1959)TGA>TAA	p.*653*		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	653										skin(2)|ovary(1)|breast(1)	4						ACACAGCTTTCAATCTGGACT	0.443		NA											19	37					0	0	0	0
GSTA3	2940	broad.mit.edu	37	6	52767169	52767169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:52767169C>T	uc003pbb.2	-	4	326	c.247G>A	c.(247-249)GGG>AGG	p.G83R	GSTA3_uc010jzq.2_Missense_Mutation_p.G27R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity				0	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTCTTTCCCGTAGAGGTTG	0.448		NA											50	147					0	0	0	0
SNAP91	9892	broad.mit.edu	37	6	84311158	84311158	+	Splice_Site	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:84311158C>G	uc011dze.1	-	15	1474	c.1157_splice	c.e15-1	p.D386_splice	SNAP91_uc011dzd.1_Splice_Site|SNAP91_uc003pkb.2_Splice_Site_p.D349_splice|SNAP91_uc003pkc.2_Splice_Site_p.D384_splice|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Splice_Site_p.D384_splice	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog						clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCAAAGAATCTATATTTCAC	0.413		NA											5	40					0	0	0	0
CNR1	1268	broad.mit.edu	37	6	88854153	88854153	+	Missense_Mutation	SNP	C	C	A	rs140051374		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:88854153C>A	uc011dzq.1	-	2	4404	c.841G>T	c.(841-843)GGG>TGG	p.G281W	CNR1_uc010kbz.2_Missense_Mutation_p.G281W|CNR1_uc011dzr.1_Missense_Mutation_p.G281W|CNR1_uc011dzs.1_Missense_Mutation_p.G281W|CNR1_uc003pmq.3_Missense_Mutation_p.G281W|CNR1_uc011dzt.1_Missense_Mutation_p.G281W|CNR1_uc010kca.2_Missense_Mutation_p.G248W	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	281	Helical; Name=5; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGTGACCCCGATCCAGAAC	0.532		NA											4	74					0.00909568	0.00929024	1	0
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90402813C>T	uc003pnn.1	-	63	10052	c.9936G>A	c.(9934-9936)AAG>AAA	p.K3312K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3312					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512		NA											14	35					0	0	0	0
BACH2	60468	broad.mit.edu	37	6	90648025	90648025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90648025C>A	uc011eab.1	-	8	2690	c.1881G>T	c.(1879-1881)AGG>AGT	p.R627S	BACH2_uc003pnw.2_Missense_Mutation_p.R627S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	627						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAATCGTTCCTTGGAAGAT	0.423		NA											18	43					3.52e-12	3.79e-12	1	0
ARMC2	84071	broad.mit.edu	37	6	109285456	109285456	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109285456C>T	uc003pss.3	+	16	2400	c.2226C>T	c.(2224-2226)CTC>CTT	p.L742L	ARMC2_uc011eao.1_Silent_p.L577L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	742	ARM 11.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTGTTCTCCTCAATCTCACTG	0.473		NA											9	25					0	0	0	0
ZBTB24	9841	broad.mit.edu	37	6	109788881	109788881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109788881G>A	uc003ptl.1	-	6	1513	c.1345C>T	c.(1345-1347)CTT>TTT	p.L449F	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.L393F|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	449	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGTCTGAAGAGAACTCTTT	0.338		NA											4	23					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938309	116938309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:116938309G>A	uc003pxe.2	+	1	668	c.523G>A	c.(523-525)GAG>AAG	p.E175K	RSPH4A_uc010kee.2_Missense_Mutation_p.E175K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	175					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TAAACAGAAAGAGCTGAGATT	0.512		NA							Kartagener_syndrome				33	116					0	0	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091557	143091557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:143091557C>T	uc003qjd.2	-	5	5062	c.4319G>A	c.(4318-4320)CGA>CAA	p.R1440Q		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAAGCATTCGCTTGCTACC	0.517		NA											23	57					0	0	0	0
IGF2R	3482	broad.mit.edu	37	6	160484469	160484469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:160484469C>G	uc003qta.2	+	27	3841	c.3693C>G	c.(3691-3693)GAC>GAG	p.D1231E		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1231	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTGAAAGACCCAAGGCATG	0.493		NA											13	74					0	0	0	0
PLG	5340	broad.mit.edu	37	6	161134112	161134112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:161134112G>C	uc003qtm.3	+	5	565	c.502G>C	c.(502-504)GAT>CAT	p.D168H		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	168	Kringle 1.				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)	CTATACTACTGATCCAGAAAA	0.478		NA											24	143					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4213926	4213926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:4213926G>T	uc003smx.2	+	33	5012	c.4873G>T	c.(4873-4875)GCC>TCC	p.A1625S	SDK1_uc010kso.2_Missense_Mutation_p.A901S|SDK1_uc003smy.2_Missense_Mutation_p.A112S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGTATGAAGCCGGGTCAGG	0.552		NA											42	256					1.39e-30	1.52e-30	1	0
RSPH10B2	728194	broad.mit.edu	37	7	5967846	5967846	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:5967846C>T	uc003sph.1	-	20	2684	c.2413G>A	c.(2413-2415)GAT>AAT	p.D805N	RSPH10B2_uc003spg.1_Silent_p.K606K|RSPH10B2_uc010ktd.1_Missense_Mutation_p.D805N|RSPH10B2_uc011jwk.1_3'UTR	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	805	Potential.									ovary(1)|pancreas(1)|skin(1)	3						AGTTCGTCATCTTCCATCTTC	0.522		NA											46	253					0	0	0	0
DGKB	1607	broad.mit.edu	37	7	14613864	14613864	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:14613864G>A	uc003ssz.2	-	19	1933	c.1746C>T	c.(1744-1746)ATC>ATT	p.I582I	DGKB_uc011jxt.1_Silent_p.I563I|DGKB_uc003sta.2_Silent_p.I582I|DGKB_uc011jxu.1_Silent_p.I581I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	582					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	AATTATTGATGATACTGTAAG	0.358		NA											4	160					0	0	0	0
TWIST1	7291	broad.mit.edu	37	7	19156446	19156446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:19156446C>A	uc003sum.2	-	1	850	c.499G>T	c.(499-501)GAG>TAG	p.E167*		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	167	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						GAGTCCAGCTCGTCGCTCTGG	0.617		NA							Saethre-Chotzen_syndrome				9	18					1.59e-06	1.68e-06	1	0
ABCB5	340273	broad.mit.edu	37	7	20739704	20739704	+	Silent	SNP	G	G	T	rs148327292		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:20739704G>T	uc003suw.3	+	10	1494	c.948G>T	c.(946-948)GGG>GGT	p.G316G	ABCB5_uc010kuh.2_Silent_p.G761G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	316	Extracellular (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						GCAGAGCAGGGGAAATTTTAA	0.284		NA											12	39					0.00244969	0.00251893	1	0
DNAH11	8701	broad.mit.edu	37	7	21621571	21621571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21621571G>C	uc003svc.2	+	9	1673	c.1642G>C	c.(1642-1644)GAC>CAC	p.D548H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	548	Stem (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						TCTGGAATTTGACAGAAGGCT	0.333		NA							Kartagener_syndrome				3	92					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21639530	21639530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21639530G>A	uc003svc.2	+	15	2824	c.2793G>A	c.(2791-2793)CTG>CTA	p.L931L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	931	Stem (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						ACTTCTTTCTGAAGAATACAG	0.403		NA							Kartagener_syndrome				13	16					0	0	0	0
NT5C3	51251	broad.mit.edu	37	7	33060909	33060909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:33060909C>G	uc003tdk.2	-	5	507	c.430G>C	c.(430-432)GAG>CAG	p.E144Q	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E105Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E105Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	144				E -> Q (in Ref. 11; AA sequence).	nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			GGGTACTTCTCTTCTACAGTA	0.313		NA											19	68					0	0	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578910	44578910	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:44578910C>T	uc003tlb.2	-	2	1142	c.1086G>A	c.(1084-1086)CCG>CCA	p.P362P	NPC1L1_uc003tlc.2_Silent_p.P362P|NPC1L1_uc011kbw.1_Silent_p.P362P|NPC1L1_uc003tld.2_Silent_p.P362P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	362	Helical; Name=2; (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGGCCACCACCGGGATGACAG	0.622		NA											34	101					0	0	0	0
POM121L12	285877	broad.mit.edu	37	7	53103789	53103789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:53103789C>T	uc003tpz.2	+	1	441	c.425C>T	c.(424-426)GCG>GTG	p.A142V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	142											0						ATCGGGATCGCGCCCCCTGAG	0.587		NA											13	30					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55224337	55224337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:55224337C>A	uc003tqk.2	+	9	1364	c.1118C>A	c.(1117-1119)CCG>CAG	p.P373Q	EGFR_uc003tqh.2_Missense_Mutation_p.P373Q|EGFR_uc003tqi.2_Missense_Mutation_p.P373Q|EGFR_uc003tqj.2_Missense_Mutation_p.P373Q|EGFR_uc010kzg.1_Missense_Mutation_p.P328Q|EGFR_uc011kco.1_Missense_Mutation_p.P320Q|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	373	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACATCCTGCCGGTGGCATTT	0.403		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	57					1.36e-06	1.44e-06	1	0
SUMF2	25870	broad.mit.edu	37	7	56142396	56142396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:56142396G>A	uc003trv.2	+	5	590	c.559G>A	c.(559-561)GAG>AAG	p.E187K	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_Intron|SUMF2_uc011kcw.1_Missense_Mutation_p.E187K|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Missense_Mutation_p.E80K|SUMF2_uc011kcy.1_Missense_Mutation_p.E172K|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	168						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGAGGAAGAGTGGGAGTT	0.567		NA									OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	112					0	0	0	0
LIMK1	3984	broad.mit.edu	37	7	73520530	73520530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73520530C>T	uc003uaa.1	+	7	1003	c.838C>T	c.(838-840)CCC>TCC	p.P280S	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.P246S|LIMK1_uc003uac.1_Missense_Mutation_p.P72S	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	280					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GGCTTATACTCCCAGCGGGGA	0.657		NA											36	176					0	0	0	0
LIMK1	3984	broad.mit.edu	37	7	73521420	73521420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73521420C>G	uc003uaa.1	+	8	1127	c.962C>G	c.(961-963)TCT>TGT	p.S321C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S287C|LIMK1_uc003uac.1_Missense_Mutation_p.S113C	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	321					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				CTGGGTCGCTCTGAGTCCCTC	0.697		NA											3	18					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81662153	81662153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:81662153C>T	uc003uhr.1	-	12	1359	c.1103G>A	c.(1102-1104)AGA>AAA	p.R368K		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	368	Extracellular (Potential).|VWFA.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCTGGGCTCTCTCTTCTCC	0.279		NA											13	24					0	0	0	0
STEAP4	79689	broad.mit.edu	37	7	87913538	87913538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:87913538G>A	uc003ujs.2	-	2	152	c.47C>T	c.(46-48)TCA>TTA	p.S16L	STEAP4_uc010lek.2_Missense_Mutation_p.S16L|STEAP4_uc003ujt.2_Missense_Mutation_p.S16L	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	16					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TTGCTTTTCTGAAGAATTCAT	0.353		NA											10	34					0	0	0	0
NPTX2	4885	broad.mit.edu	37	7	98256620	98256620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98256620C>G	uc003upl.2	+	4	1209	c.1032C>G	c.(1030-1032)ATC>ATG	p.I344M		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	344	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCCATCAAGCCCGGGG	0.662		NA											16	40					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98545957	98545957	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98545957G>C	uc003upp.2	+	33	4850	c.4641G>C	c.(4639-4641)CTG>CTC	p.L1547L	TRRAP_uc011kis.1_Silent_p.L1529L|TRRAP_uc003upr.2_Silent_p.L1246L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1547					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGATGCTGATCGAGGTAA	0.512		NA											13	50					0	0	0	0
MCM7	4176	broad.mit.edu	37	7	99696309	99696309	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99696309G>A	uc003usw.1	-	6	1122	c.612C>T	c.(610-612)ATC>ATT	p.I204I	MCM7_uc003usv.1_Silent_p.I28I|MCM7_uc003usx.1_Silent_p.I28I|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	204					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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTGGGCACATGATCAGAGGCA	0.517		NA											25	88					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99710524C>T	uc003uti.2	-	6	552	c.471G>A	c.(469-471)CAG>CAA	p.Q157Q	TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.532		NA											77	187					0	0	0	0
FBXL13	222235	broad.mit.edu	37	7	102553560	102553560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:102553560G>C	uc003vaq.2	-	11	1408	c.981C>G	c.(979-981)ATC>ATG	p.I327M	FBXL13_uc010liq.1_Missense_Mutation_p.I142M|FBXL13_uc010lir.1_Missense_Mutation_p.I327M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.I327M|LRRC17_uc003vat.2_5'UTR|LRRC17_uc003vau.2_5'UTR	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	327	LRR 4.										0						GGTCCAGATAGATGAGCTTGT	0.488		NA											5	22					0	0	0	0
FSCN3	29999	broad.mit.edu	37	7	127236417	127236417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:127236417C>T	uc003vmd.1	+	3	1096	c.877C>T	c.(877-879)CGA>TGA	p.R293*	FSCN3_uc011koh.1_Nonsense_Mutation_p.R159*|FSCN3_uc010llc.1_Nonsense_Mutation_p.R293*	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	293						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						GCGCTTAAACCGAATGTCCTT	0.537		NA											44	86					0	0	0	0
TMEM140	55281	broad.mit.edu	37	7	134849728	134849728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:134849728G>C	uc003vsi.2	+	2	816	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	179	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)	1						TGAGAGGGCTGAGAGCAAGCT	0.557		NA											14	30					0	0	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603406	138603406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:138603406G>A	uc011kql.1	-	2	1015	c.966C>T	c.(964-966)TAC>TAT	p.Y322Y	KIAA1549_uc003vuk.3_Silent_p.Y272Y|KIAA1549_uc011kqj.1_Silent_p.Y322Y	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	322						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCACATCAGTGTATCTGTCTG	0.542		NA	O	BRAF	pilocytic astrocytoma								36	48					0	0	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486079	17486079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:17486079C>T	uc003wxr.2	+	4	650	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	197						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)		GGTTCCTTGTCGGGTGACCGT	0.532		NA											34	89					0	0	0	0
PIWIL2	55124	broad.mit.edu	37	8	22210625	22210625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22210625C>T	uc003xbn.2	+	21	2705	c.2557C>T	c.(2557-2559)CAG>TAG	p.Q853*	PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q853*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q853*|PIWIL2_uc003xbo.2_Nonsense_Mutation_p.Q7*	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	853	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTTGTAGTTCAGAAGAAAAT	0.413		NA											33	68					0	0	0	0
BIN3	55909	broad.mit.edu	37	8	22494439	22494439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22494439G>A	uc003xcl.2	-	3	191	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	BIN3_uc003xck.2_Silent_p.F4F|BIN3_uc010ltw.2_Intron	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	32	BAR.|Potential.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCACTGCTGAAGTTTTCCA	0.547		NA											10	44					0	0	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22886091	22886091	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22886091G>T	uc003xcu.2	-	5	794	c.501C>A	c.(499-501)GTC>GTA	p.V167V	TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Silent_p.V167V|TNFRSF10B_uc011kzq.1_Silent_p.V16V|TNFRSF10B_uc003xcv.2_Silent_p.V65V	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	167	Extracellular (Potential).|TNFR-Cys 3.				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TACAATCACCGACCTTGACCA	0.562		NA											32	96					9.78e-24	1.07e-23	1	0
UNC5D	137970	broad.mit.edu	37	8	35616848	35616848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:35616848C>G	uc003xjr.1	+	14	2502	c.2174C>G	c.(2173-2175)TCA>TGA	p.S725*	UNC5D_uc003xjs.1_Nonsense_Mutation_p.S720*|UNC5D_uc003xju.1_Nonsense_Mutation_p.S301*	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	725	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGTGGTTTCAGATGAAAGG	0.378		NA											22	68					0	0	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162181	38162181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:38162181G>A	uc003xli.2	-	14	3053	c.2535C>T	c.(2533-2535)CTC>CTT	p.L845L	WHSC1L1_uc011lbm.1_Silent_p.L845L|WHSC1L1_uc010lwe.2_Silent_p.L845L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	845					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACTACAGATGAGAATGTAGG	0.438		NA	T	NUP98	AML								17	94					0	0	0	0
THAP1	55145	broad.mit.edu	37	8	42693174	42693174	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:42693174G>A	uc003xpk.2	-	3	810	c.573C>T	c.(571-573)GAC>GAT	p.D191D	THAP1_uc003xpl.2_3'UTR	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated	191					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATACGTCGTCTTTCTCTT	0.388		NA											24	87					0	0	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048965	43048965	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:43048965G>A	uc003xpx.3	+	14	1491	c.1443G>A	c.(1441-1443)GTG>GTA	p.V481V		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	509	Helical; (Potential).		V -> L (does not have any clinical significance; no loss of enzymatic activity).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTCCATCGTGATGGCCTTTT	0.403		NA											24	62					0	0	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508622	95508622	+	Silent	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95508622T>C	uc003ygo.1	-	18	4330	c.4317A>G	c.(4315-4317)AAA>AAG	p.K1439K	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1439					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393		NA											17	35					0	0	0	0
TP53INP1	94241	broad.mit.edu	37	8	95942725	95942725	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95942725C>T	uc003yhg.2	-	4	1089	c.705G>A	c.(703-705)CCG>CCA	p.P235P	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_3'UTR	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	235					apoptosis	PML body					0	Breast(36;8.75e-07)					TGTACTGACGCGGGCAGGGCT	0.438		NA											53	115					0	0	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289207	98289207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:98289207C>G	uc003yhy.2	-	1	970	c.866G>C	c.(865-867)AGA>ACA	p.R289T		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GTAGCCCAATCTGGCAAGGCC	0.473		NA											27	69					0	0	0	0
OSR2	116039	broad.mit.edu	37	8	99963753	99963753	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:99963753C>G	uc003yir.2	+	4	1298	c.763C>G	c.(763-765)CCA>GCA	p.P255A	OSR2_uc003yiq.2_Intron|OSR2_uc011lgx.1_Missense_Mutation_p.P376A	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	255					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAGGAATCTCCACACAAATG	0.428		NA											3	7					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100866028	100866028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:100866028G>A	uc003yiv.2	+	56	10597	c.10486G>A	c.(10486-10488)GAA>AAA	p.E3496K	VPS13B_uc003yiw.2_Missense_Mutation_p.E3471K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3496					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)			AGAGTTGGAAGAATACAAGGA	0.383		NA											23	63					0	0	0	0
WDR67	93594	broad.mit.edu	37	8	124109599	124109599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124109599G>C	uc003ypp.1	+	6	839	c.749G>C	c.(748-750)AGA>ACA	p.R250T	WDR67_uc011lig.1_Missense_Mutation_p.R250T|WDR67_uc011lih.1_Missense_Mutation_p.R140T|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.R250T|WDR67_uc003ypr.2_RNA	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	250	WD 4.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGCTCTTTAGAATTATCCAG	0.408		NA											13	50					0	0	0	0
WDR67	93594	broad.mit.edu	37	8	124138784	124138784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124138784G>C	uc003ypp.1	+	13	1831	c.1741G>C	c.(1741-1743)GAA>CAA	p.E581Q	WDR67_uc011lig.1_Missense_Mutation_p.E581Q|WDR67_uc011lih.1_Missense_Mutation_p.E471Q|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E294Q|WDR67_uc003ypt.1_Missense_Mutation_p.E38Q|WDR67_uc003ypu.1_Missense_Mutation_p.E38Q	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	581	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGTTCTCAGAAGTGCTGAC	0.368		NA											14	28					0	0	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810476	124810476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124810476C>T	uc003yqv.2	+	16	1619	c.1558C>T	c.(1558-1560)CAG>TAG	p.Q520*	FAM91A1_uc011lik.1_Nonsense_Mutation_p.Q520*|FAM91A1_uc011lil.1_Nonsense_Mutation_p.Q278*	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	520										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCACCCCTCAGGTAAAGAC	0.453		NA											17	52					0	0	0	0
ZNF572	137209	broad.mit.edu	37	8	125989717	125989717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:125989717C>T	uc003yrr.2	+	3	1362	c.1207C>T	c.(1207-1209)CAG>TAG	p.Q403*		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	403	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATTAGACATCAGAGAACACA	0.423		NA								HNSCC(60;0.17)			10	56					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164359C>T	uc003yuy.2	-	13	2530	c.2359G>A	c.(2359-2361)GAC>AAC	p.D787N	FAM135B_uc003yux.2_Missense_Mutation_p.D688N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D349N|FAM135B_uc003yvb.2_Missense_Mutation_p.D349N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	787										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522		NA								HNSCC(54;0.14)			8	55					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164976	139164976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164976G>C	uc003yuy.2	-	13	1913	c.1742C>G	c.(1741-1743)TCT>TGT	p.S581C	FAM135B_uc003yux.2_Missense_Mutation_p.S482C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S143C|FAM135B_uc003yvb.2_Missense_Mutation_p.S143C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	581										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTATCTCTAGAGCTCCTACT	0.478		NA								HNSCC(54;0.14)			34	95					0	0	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961152	143961152	+	Silent	SNP	C	C	G	rs147788769		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:143961152C>G	uc003yxi.2	-	1	85	c.78G>C	c.(76-78)ACG>ACC	p.T26T	CYP11B1_uc003yxj.2_Silent_p.T26T|CYP11B1_uc010mey.2_Silent_p.T26T	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	26					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCGGCTCTCGTGCCCAGTG	0.652		NA							Familial_Hyperaldosteronism_type_I				20	77					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144943311	144943311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144943311C>T	uc003zaa.1	-	1	4124	c.4111G>A	c.(4111-4113)GGG>AGG	p.G1371R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1371	Plectin 24.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTGCACCCCGTGGACAGGG	0.637		NA											8	31					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144991749	144991749	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144991749C>T	uc003zaf.1	-	32	12821	c.12651G>A	c.(12649-12651)CTG>CTA	p.L4217L	PLEC_uc003zab.1_Silent_p.L4080L|PLEC_uc003zac.1_Silent_p.L4084L|PLEC_uc003zad.2_Silent_p.L4080L|PLEC_uc003zae.1_Silent_p.L4048L|PLEC_uc003zag.1_Silent_p.L4058L|PLEC_uc003zah.2_Silent_p.L4066L|PLEC_uc003zaj.2_Silent_p.L4107L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4217	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGGGGTCGGTCAGGATCTCGT	0.617		NA											12	45					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998102	144998102	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144998102C>G	uc003zaf.1	-	31	6576	c.6406G>C	c.(6406-6408)GAG>CAG	p.E2136Q	PLEC_uc003zab.1_Missense_Mutation_p.E1999Q|PLEC_uc003zac.1_Missense_Mutation_p.E2003Q|PLEC_uc003zad.2_Missense_Mutation_p.E1999Q|PLEC_uc003zae.1_Missense_Mutation_p.E1967Q|PLEC_uc003zag.1_Missense_Mutation_p.E1977Q|PLEC_uc003zah.2_Missense_Mutation_p.E1985Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2026Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2136	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTGCGGCCTCCTCCTCGGCC	0.746		NA											3	21					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	145007122	145007122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145007122G>A	uc003zaf.1	-	14	2157	c.1987C>T	c.(1987-1989)CAG>TAG	p.Q663*	PLEC_uc003zab.1_Nonsense_Mutation_p.Q526*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q530*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q526*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q494*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q504*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q512*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q553*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	663	Spectrin 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCAGGTCCTGCAGGTAGCGC	0.697		NA											6	29					0	0	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771162	145771162	+	Missense_Mutation	SNP	C	C	G	rs149131924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145771162C>G	uc003zdt.1	-	7	2547	c.1992G>C	c.(1990-1992)GAG>GAC	p.E664D	ARHGAP39_uc011llk.1_Missense_Mutation_p.E664D|ARHGAP39_uc003zds.1_Missense_Mutation_p.E664D	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	664					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GCCGGCTGCTCTCGAACTGGG	0.677		NA											6	20					0	0	0	0
FOXD4	2298	broad.mit.edu	37	9	117879	117879	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:117879C>G	uc003zfz.2	-	1	539	c.241G>C	c.(241-243)GAG>CAG	p.E81Q		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	81					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGCCAAACTCTGAGGGGTCG	0.711		NA											14	246					0	0	0	0
PTPRD	5789	broad.mit.edu	37	9	8524994	8524994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:8524994T>C	uc003zkk.2	-	17	1321	c.610A>G	c.(610-612)AAA>GAA	p.K204E	PTPRD_uc003zkp.2_Missense_Mutation_p.K204E|PTPRD_uc003zkq.2_Missense_Mutation_p.K204E|PTPRD_uc003zkr.2_Missense_Mutation_p.K198E|PTPRD_uc003zks.2_Missense_Mutation_p.K198E|PTPRD_uc003zkl.2_Missense_Mutation_p.K204E|PTPRD_uc003zkm.2_Missense_Mutation_p.K195E|PTPRD_uc003zkn.2_Missense_Mutation_p.K204E|PTPRD_uc003zko.2_Missense_Mutation_p.K201E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	204	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTCATATTTTCCTTGGTCA	0.348		NA								TSP Lung(15;0.13)			49	135					0	0	0	0
TOPORS	10210	broad.mit.edu	37	9	32542604	32542604	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:32542604C>T	uc003zrb.2	-	3	2086	c.1919G>A	c.(1918-1920)AGA>AAA	p.R640K	TOPORS_uc003zrc.2_Missense_Mutation_p.R573K	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	640	Arg-rich.|Interaction with TOP1.|Interaction with SUMO1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTGTCTCTTCTCCCTCTAGG	0.423		NA											80	236					0	0	0	0
PRSS3	5646	broad.mit.edu	37	9	33796723	33796723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:33796723G>A	uc003ztj.3	+	2	294	c.294G>A	c.(292-294)CTG>CTA	p.L98L	uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.L55L|PRSS3_uc003ztl.3_Silent_p.L41L	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	98	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGGTGTCCCTGAATTCTGGCT	0.547		NA											7	178					0	0	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627818	43627818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:43627818G>A	uc011lrb.1	-	4	898	c.869C>T	c.(868-870)TCG>TTG	p.S290L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	290						integral to membrane					0						AAAGGCGCACGAGGTTCTGGC	0.552		NA											83	82					0	0	0	0
PRUNE2	158471	broad.mit.edu	37	9	79244121	79244121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:79244121C>T	uc010mpk.2	-	16	9260	c.9136G>A	c.(9136-9138)GAG>AAG	p.E3046K	PRUNE2_uc011lsk.1_Missense_Mutation_p.E295K|PRUNE2_uc011lsl.1_Missense_Mutation_p.E310K|PRUNE2_uc011lsm.1_Missense_Mutation_p.E311K|PRUNE2_uc004akj.3_Missense_Mutation_p.E500K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	3046	CRAL-TRIO.				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ATGATGCTCTCTGGAATGTGG	0.274		NA											4	14					0	0	0	0
UBQLN1	29979	broad.mit.edu	37	9	86276731	86276731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86276731C>T	uc004amv.2	-	11	2315	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	UBQLN1_uc004amw.2_Missense_Mutation_p.E553K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	581	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						AGTAACCTTTCAATAGCTGCA	0.383		NA											24	69					0	0	0	0
KIF27	55582	broad.mit.edu	37	9	86518439	86518439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86518439G>C	uc004ana.2	-	4	1138	c.994C>G	c.(994-996)CTC>GTC	p.L332V	KIF27_uc010mpw.2_Missense_Mutation_p.L332V|KIF27_uc010mpx.2_Missense_Mutation_p.L332V	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	332					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GCATATTTGAGAGAATTTAAG	0.433		NA											22	80					0	0	0	0
BICD2	23299	broad.mit.edu	37	9	95481630	95481630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:95481630C>G	uc004aso.1	-	5	1354	c.1297G>C	c.(1297-1299)GAG>CAG	p.E433Q	BICD2_uc004asp.1_Missense_Mutation_p.E433Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	433	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GCCAAGATCTCAGGCCCGTTG	0.637		NA											6	56					0	0	0	0
KIAA1529	57653	broad.mit.edu	37	9	100056386	100056386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:100056386G>A	uc011lut.1	+	11	1017	c.244G>A	c.(244-246)GAC>AAC	p.D82N	KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Missense_Mutation_p.D82N|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TGAGGGAGCAGACATGGGTAA	0.607		NA											21	50					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113169862	113169862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:113169862G>A	uc010mtz.2	-	38	8355	c.8018C>T	c.(8017-8019)TCA>TTA	p.S2673L	SVEP1_uc010mty.2_Missense_Mutation_p.S599L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2673	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CAGAAAGTTTGATGAATGTGT	0.443		NA											55	167					0	0	0	0
WDR31	114987	broad.mit.edu	37	9	116083793	116083793	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116083793G>A	uc004bhe.2	-	8	888	c.636C>T	c.(634-636)CTC>CTT	p.L212L	WDR31_uc004bhc.2_Silent_p.L211L|WDR31_uc004bhd.2_Silent_p.L87L|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	212	WD 4.										0						AAGCCCACCTGAGGGTTTTAT	0.478		NA											13	26					0	0	0	0
HDHD3	81932	broad.mit.edu	37	9	116136231	116136231	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116136231G>C	uc004bhi.1	-	2	1188	c.404C>G	c.(403-405)TCC>TGC	p.S135C	HDHD3_uc004bhj.2_Missense_Mutation_p.S135C|HDHD3_uc004bhk.2_Missense_Mutation_p.S135C	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	135							phosphoglycolate phosphatase activity|protein binding				0						GTCAAAGTTGGAGATCACTGC	0.622		NA											43	137					0	0	0	0
OR1L3	26735	broad.mit.edu	37	9	125438072	125438072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:125438072C>T	uc011lzb.1	+	1	664	c.664C>T	c.(664-666)CTC>TTC	p.L222F		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTAAGAATTCTCATCGCTGT	0.468		NA											23	72					0	0	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086134	128086134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:128086134C>T	uc010mwx.2	+	11	2116	c.1790C>T	c.(1789-1791)TCA>TTA	p.S597L	GAPVD1_uc011lzs.1_Missense_Mutation_p.S597L|GAPVD1_uc004bpp.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpq.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpr.2_Missense_Mutation_p.S576L|GAPVD1_uc004bps.2_Missense_Mutation_p.S597L|GAPVD1_uc010mwy.1_Missense_Mutation_p.S456L	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	597					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GAGTCTGTGTCAGAACTTGGA	0.428		NA											11	53					0	0	0	0
FUBP3	8939	broad.mit.edu	37	9	133507625	133507625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:133507625C>A	uc004bzr.1	+	16	1578	c.1470C>A	c.(1468-1470)AGC>AGA	p.S490R	FUBP3_uc004bzs.1_Missense_Mutation_p.S403R	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	490					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTGGGGCAGCACCTACCAGG	0.622		NA											12	32					4.38e-07	4.65e-07	1	0
RALGDS	5900	broad.mit.edu	37	9	135982483	135982483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135982483C>T	uc004cco.2	-	7	1422	c.1402G>A	c.(1402-1404)GAG>AAG	p.E468K	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E456K|RALGDS_uc004ccr.2_Missense_Mutation_p.E467K|RALGDS_uc011mcv.1_Missense_Mutation_p.E439K|RALGDS_uc004ccs.2_Missense_Mutation_p.E413K|RALGDS_uc011mcw.1_Missense_Mutation_p.E539K|RALGDS_uc004ccv.1_Missense_Mutation_p.E237K|RALGDS_uc004ccu.1_Missense_Mutation_p.E237K	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	468	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGGCCACCTCGATCCAGTGC	0.622		NA	T	CIITA	PMBL|Hodgkin Lymphona|								12	57					0	0	0	0
RALGDS	5900	broad.mit.edu	37	9	135985044	135985044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135985044C>T	uc004cco.2	-	4	573	c.553G>A	c.(553-555)GAG>AAG	p.E185K	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E173K|RALGDS_uc004ccr.2_Missense_Mutation_p.E184K|RALGDS_uc011mcv.1_Missense_Mutation_p.E156K|RALGDS_uc004ccs.2_Missense_Mutation_p.E130K|RALGDS_uc011mcw.1_Missense_Mutation_p.E256K|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	185	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACCATCCTCGTCGGAATAG	0.418		NA	T	CIITA	PMBL|Hodgkin Lymphona|								18	61					0	0	0	0
SARDH	1757	broad.mit.edu	37	9	136596561	136596561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:136596561C>G	uc004cep.3	-	4	690	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	SARDH_uc004ceo.2_Missense_Mutation_p.E186Q|SARDH_uc011mdn.1_Missense_Mutation_p.E186Q|SARDH_uc011mdo.1_Missense_Mutation_p.E18Q	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	186					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTTGGTCTCTGCCGGGCTC	0.627		NA											7	71					0	0	0	0
PMPCA	23203	broad.mit.edu	37	9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139309033G>C	uc004chl.2	+	5	471	c.466G>C	c.(466-468)GAT>CAT	p.D156H	PMPCA_uc011mdy.1_Missense_Mutation_p.D156H|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.D56H|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572		NA											6	94					0	0	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749723	139749723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139749723G>A	uc004cjs.2	+	11	1265	c.1215G>A	c.(1213-1215)CAG>CAA	p.Q405Q	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	405	MAM 2.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCCGGGCAGACAGGCCCGG	0.672		NA											21	22					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139909920	139909920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139909920C>T	uc011mem.1	-	23	3788	c.3640G>A	c.(3640-3642)GAC>AAC	p.D1214N	ABCA2_uc011mel.1_Missense_Mutation_p.D1215N|ABCA2_uc004ckl.1_Missense_Mutation_p.D1145N|ABCA2_uc004ckm.1_Missense_Mutation_p.D1245N|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1214	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTACCCGTCGCCATAGGTG	0.662		NA											3	10					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139910481	139910481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910481C>T	uc011mem.1	-	21	3395	c.3247G>A	c.(3247-3249)GAA>AAA	p.E1083K	ABCA2_uc011mel.1_Missense_Mutation_p.E1084K|ABCA2_uc004ckl.1_Missense_Mutation_p.E1014K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1114K|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1083	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGGTGTTCCTCCACCGTG	0.622		NA											23	35					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139910547	139910547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910547C>T	uc011mem.1	-	21	3329	c.3181G>A	c.(3181-3183)GAG>AAG	p.E1061K	ABCA2_uc011mel.1_Missense_Mutation_p.E1062K|ABCA2_uc004ckl.1_Missense_Mutation_p.E992K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1092K|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1061	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGCGGATCTCATCCATCTCC	0.612		NA											31	63					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139913234	139913234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139913234C>T	uc011mem.1	-	12	1901	c.1753G>A	c.(1753-1755)GAG>AAG	p.E585K	ABCA2_uc011mel.1_Missense_Mutation_p.E586K|ABCA2_uc004ckl.1_Missense_Mutation_p.E516K|ABCA2_uc004ckm.1_Missense_Mutation_p.E616K|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E362K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	585					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATGCTCTCCTCGTCGTGGAAG	0.527		NA											17	51					0	0	0	0
BMX	660	broad.mit.edu	37	X	15560113	15560113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:15560113G>T	uc004cww.2	+	15	1591	c.1403G>T	c.(1402-1404)AGC>ATC	p.S468I	BMX_uc004cwx.3_Missense_Mutation_p.S468I|BMX_uc004cwy.3_Missense_Mutation_p.S468I	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	468	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AGGAAACTCAGCCATCCCAAG	0.373		NA											35	46					2.49e-23	2.72e-23	1	0
DMD	1756	broad.mit.edu	37	X	32398771	32398771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:32398771C>A	uc004dda.1	-	34	4945	c.4701G>T	c.(4699-4701)GAG>GAT	p.E1567D	DMD_uc004dcw.2_Missense_Mutation_p.E223D|DMD_uc004dcx.2_Missense_Mutation_p.E226D|DMD_uc004dcz.2_Missense_Mutation_p.E1444D|DMD_uc004dcy.1_Missense_Mutation_p.E1563D|DMD_uc004ddb.1_Missense_Mutation_p.E1559D|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1567	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCATTTCTCCAACTGTT	0.338		NA											23	17					1.28e-07	1.36e-07	1	0
USP9X	8239	broad.mit.edu	37	X	41000592	41000592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:41000592G>A	uc004dfb.2	+	9	1702	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K	USP9X_uc004dfc.2_Missense_Mutation_p.E357K	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	357					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						TGCACTGAATGAAGTTAATAA	0.348		NA											10	5					0	0	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472745	46472745	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:46472745C>G	uc004dgu.1	-	16	1913	c.1905G>C	c.(1903-1905)CTG>CTC	p.L635L		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	635					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						GGGGACTGGTCAGACATCGAG	0.512		NA											19	27					0	0	0	0
CFP	5199	broad.mit.edu	37	X	47485839	47485839	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:47485839G>A	uc004dig.3	-	7	1146	c.1020C>T	c.(1018-1020)ATC>ATT	p.I340I	CFP_uc004dih.2_Silent_p.I340I|CFP_uc004dii.1_Silent_p.I276I|CFP_uc010nhu.2_Silent_p.I340I	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	340	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GCTGGCCCGGGATTTCTTGAC	0.617		NA											15	10					0	0	0	0
CACNA1F	778	broad.mit.edu	37	X	49076130	49076130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49076130C>T	uc004dnb.2	-	20	2601	c.2539G>A	c.(2539-2541)GAG>AAG	p.E847K	CACNA1F_uc010nip.2_Missense_Mutation_p.E836K	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	847	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GCGCTGCCCTCAGGGATGGGT	0.512		NA											3	3					0	0	0	0
AKAP4	8852	broad.mit.edu	37	X	49958507	49958507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49958507A>G	uc004dow.1	-	5	981	c.857T>C	c.(856-858)ATG>ACG	p.M286T	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.M108T|AKAP4_uc004dou.1_Missense_Mutation_p.M277T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	286					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					AGTGCCACGCATTTCTGCAGC	0.498		NA											15	21					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53602642	53602642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:53602642C>G	uc004dsp.2	-	45	6393	c.5991G>C	c.(5989-5991)CAG>CAC	p.Q1997H	HUWE1_uc004dsn.2_Missense_Mutation_p.Q821H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1997					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGTCACTGCTCTGACGCGTAA	0.448		NA											6	7					0	0	0	0
PIN4	5303	broad.mit.edu	37	X	71401627	71401627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:71401627G>A	uc004eam.2	+	1	102	c.67G>A	c.(67-69)GCT>ACT	p.A23T	PIN4_uc004eao.1_Missense_Mutation_p.A23T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	Error:Variant_position_missing_in_Q9Y237_after_alignment					protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity				0	Renal(35;0.156)					TCAACAACAAGCTTCCAAGAT	0.547		NA											5	11					0	0	0	0
UPRT	139596	broad.mit.edu	37	X	74519710	74519710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:74519710C>A	uc004ecb.1	+	5	832	c.703C>A	c.(703-705)CTT>ATT	p.L235I	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.L235I|UPRT_uc004ece.1_Missense_Mutation_p.L99I	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	235					nucleoside metabolic process	cytoplasm|nucleus					0						GAGAAAAGTCCTTCTGATGTA	0.413		NA											37	23					5.04e-16	5.48e-16	1	0
TAF7L	54457	broad.mit.edu	37	X	100532640	100532640	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:100532640C>G	uc004ehb.2	-	9	915	c.903G>C	c.(901-903)TTG>TTC	p.L301F	TAF7L_uc004eha.2_Missense_Mutation_p.L215F|TAF7L_uc004ehc.1_Missense_Mutation_p.L215F	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	301					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						CCGAGGATATCAAAAATCCTG	0.468		NA											20	97					0	0	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585606	115585606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:115585606C>T	uc004eqi.2	+	10	1506	c.1402C>T	c.(1402-1404)CAG>TAG	p.Q468*		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	468	Helical; Name=9; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	CTGTGTGACTCAGGTATACTA	0.358		NA											17	21					0	0	0	0
MCTS1	28985	broad.mit.edu	37	X	119738100	119738100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:119738100G>C	uc004esx.2	+	1	357	c.9G>C	c.(7-9)AAG>AAC	p.K3N	MCTS1_uc011mub.1_5'Flank	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	3					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TCATGTTCAAGAAGTAAGGAC	0.582		NA											8	24					0	0	0	0
THOC2	57187	broad.mit.edu	37	X	122866817	122866817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:122866817G>A	uc004etu.2	-	1	88	c.56C>T	c.(55-57)TCA>TTA	p.S19L	THOC2_uc011mui.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	19					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GCCTCTCCCTGATTTCTCCCA	0.632		NA									OREG0003979|OREG0003978	type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870254	151870254	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:151870254G>C	uc004ffq.1	+	3	1138	c.944G>C	c.(943-945)TGA>TCA	p.*315S	MAGEA6_uc004ffr.1_Nonstop_Mutation_p.*315S|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	315							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGAGTGAGTCTGAGCA	0.577		NA											29	60					0	0	0	0
G6PD	2539	broad.mit.edu	37	X	153760233	153760233	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:153760233C>A	uc004fly.1	-	13	1643	c.1530G>T	c.(1528-1530)GTG>GTT	p.V510V	G6PD_uc004flx.1_Silent_p.V540V	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	510					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGGGGTTCACCCACTTGT	0.677		NA											7	9					8.13e-05	8.47e-05	1	0
OR4A47	403253	broad.mit.edu	37	11	48510865	48510866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:48510865_48510866insT	uc010rhx.1	+	1	521_522	c.521_522insT	c.(520-522)CATfs	p.H174fs		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTCATTGATCATTTTTTCTGTG	0.465		NA											11	172	---	---	---	---	NA	NA	NA	NA
ZNF750	79755	broad.mit.edu	37	17	80790179	80790179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80790179delT	uc002kga.2	-	2	463	c.152delA	c.(151-153)AACfs	p.N51fs	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	51						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTAATCGAGTTTTTACAAAG	0.433		NA											46	50	---	---	---	---	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1221270	1221270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221270delG	uc002lrl.1	+	6	1908	c.793delG	c.(793-795)GAGfs	p.E265fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	265	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGG	0.597		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			5	8	---	---	---	---	NA	NA	NA	NA
ENAM	10117	broad.mit.edu	37	4	71508386	71508409	+	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	ACTACTGTTGCCCCACTGGGTCCC	-	rs111931241		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	uc011caw.1	+	9	1524_1547	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	c.(1243-1266)ACTACTGTTGCCCCACTGGGTCCCdel	p.TTVAPLGP415del		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	415_422					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC	0.451		NA											9	94	---	---	---	---	NA	NA	NA	NA
SLC39A7	7922	broad.mit.edu	37	6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33169037delG	uc003odf.2	+	2	132	c.15delG	c.(13-15)CTGfs	p.L5fs	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Del_p.L5fs|SLC39A7_uc011dqv.1_5'UTR|SLC39A7_uc003odh.2_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	5						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						CCAGAGGCCTGGGGGCCCCCC	0.637		NA											8	156	---	---	---	---	NA	NA	NA	NA
UHRF1BP1	54887	broad.mit.edu	37	6	34839418	34839419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:34839418_34839419insT	uc003oju.3	+	19	4273_4274	c.4039_4040insT	c.(4039-4041)ATGfs	p.M1347fs	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1347										ovary(3)	3						CACTCTGGCCATGGAACATGTT	0.525		NA											21	38	---	---	---	---	NA	NA	NA	NA
ZNF107	51427	broad.mit.edu	37	7	64168926	64168927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:64168926_64168927insA	uc003ttd.2	+	7	3030_3031	c.2244_2245insA	c.(2242-2247)TACAAAfs	p.Y748fs	ZNF107_uc003tte.2_Frame_Shift_Ins_p.Y748fs	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	748_749	C2H2-type 25; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAACCCTACAAATGTGGAGA	0.361		NA											13	19	---	---	---	---	NA	NA	NA	NA
