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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
PRAMEF16	654348	broad.mit.edu	37	1	13497721	13497721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:13497721C>G	uc001aux.2	+	3	1048	c.1018C>G	c.(1018-1020)CTT>GTT	p.L340V		NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN	PRAME family member 16	340	LRR 1.										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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGAGCCCCTTGGAGCTCT	0.517			NA											29	62					0	0	0.004289	0	0
HNRNPR	10236	broad.mit.edu	37	1	23660011	23660011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:23660011C>A	uc001bgr.3	-	5	657	c.498G>T	c.(496-498)GAG>GAT	p.E166D	HNRNPR_uc001bgp.3_Missense_Mutation_p.E166D|HNRNPR_uc009vqk.2_Missense_Mutation_p.E65D|HNRNPR_uc001bgs.3_Missense_Mutation_p.E65D|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Missense_Mutation_p.E65D|HNRNPR_uc009vql.2_Intron	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	166	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GAACACTTACCTCCGTTCCAA	0.448			NA											8	27					2.74318e-10	3.82769e-10	0.006214	1	0
ARID1A	8289	broad.mit.edu	37	1	27056169	27056169	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:27056169A>T	uc001bmv.1	+	2	1538	c.1165A>T	c.(1165-1167)AAG>TAG	p.K389*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.K6*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	389					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAGATGGGCAAGATGAGACC	0.507			NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								21	66					0	0	0.00333	0	0
FNDC5	252995	broad.mit.edu	37	1	33333813	33333813	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:33333813C>T	uc001bwg.2	-	3	377	c.162G>A	c.(160-162)GAG>GAA	p.E54E	FNDC5_uc001bwf.1_Silent_p.E54E	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	113	Extracellular (Potential).					integral to membrane|peroxisomal membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCCATCTTCTCAGCCTCAC	0.602			NA											49	118					0	0	0.01441	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377303	60377303	+	Silent	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:60377303A>G	uc001czq.2	-	4	666	c.661T>C	c.(661-663)TTG>CTG	p.L221L		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	221					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					GAAGCCTCCAAGTATGTGACT	0.448			NA											9	51					0	0	0.010729	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448581	89448581	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:89448581T>C	uc009wcx.2	-	3	1645	c.929A>G	c.(928-930)TAT>TGT	p.Y310C	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.Y310C	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	310	Ser-rich.						nucleotide binding|RNA binding				0						ATAATCATCATAGCGACTGCT	0.488			NA											42	112					0	0	0.01441	0	0
NTNG1	22854	broad.mit.edu	37	1	107973521	107973521	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:107973521G>A	uc001dvh.3	+	6	1955	c.1237G>A	c.(1237-1239)GAT>AAT	p.D413N	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	413	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAACTGGACGATGAGAATGT	0.458			NA											7	20					0	0	0.008291	0	0
TBX15	6913	broad.mit.edu	37	1	119427455	119427455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:119427455C>A	uc001ehl.1	-	8	1706	c.1391G>T	c.(1390-1392)AGC>ATC	p.S464I	TBX15_uc009whj.1_Missense_Mutation_p.S288I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	570						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTGAAGGGCTAATCATGTG	0.542			NA											19	39					2.35188e-11	3.30733e-11	0.006122	1	0
ADAR	103	broad.mit.edu	37	1	154574460	154574460	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:154574460C>A	uc001ffh.2	-	2	858	c.658G>T	c.(658-660)GCC>TCC	p.A220S	ADAR_uc001ffj.2_Missense_Mutation_p.A220S|ADAR_uc001ffi.2_Missense_Mutation_p.A220S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	220					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGCTCCTTGGCTA	0.527			NA											4	67					0.00307968	0.00328013	0.00308	1	0
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:154574475C>T	uc001ffh.2	-	2	843	c.643G>A	c.(643-645)GGT>AGT	p.G215S	ADAR_uc001ffj.2_Missense_Mutation_p.G215S|ADAR_uc001ffi.2_Missense_Mutation_p.G215S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	215					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522			NA											4	74					0	0	0.006214	0	0
SPTA1	6708	broad.mit.edu	37	1	158627389	158627389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:158627389G>T	uc001fst.1	-	19	2882	c.2683C>A	c.(2683-2685)CTT>ATT	p.L895I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	895	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTGGCTTCAAGATCATTTTGT	0.468			NA											28	136					1.836e-18	2.9246e-18	0.003755	1	0
USF1	7391	broad.mit.edu	37	1	161011631	161011631	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:161011631C>A	uc001fxi.2	-	6	477	c.282G>T	c.(280-282)GTG>GTT	p.V94V	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.V35V	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	94					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CACCCTGGATCACCGCCTGGG	0.537			NA											34	37					9.45814e-24	1.6214e-23	0.004878	1	0
UCK2	7371	broad.mit.edu	37	1	165865506	165865506	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:165865506C>A	uc001gdp.2	+	4	617	c.436C>A	c.(436-438)CGA>AGA	p.R146R	UCK2_uc010plb.1_Intron	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	146					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCAGGAGGTACGAGACCTGTT	0.547			NA											27	157					1.75199e-13	2.56388e-13	0.007291	1	0
RGS18	64407	broad.mit.edu	37	1	192127884	192127884	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:192127884C>A	uc001gsg.2	+	1	293	c.117C>A	c.(115-117)ATC>ATA	p.I39I		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	39					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						AAGCCAAAATCAGGTAAAATT	0.279			NA											9	25					1.76689e-08	2.32147e-08	0.006214	1	0
CFHR4	10877	broad.mit.edu	37	1	196871712	196871712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:196871712C>A	uc001gto.2	+	2	292	c.223C>A	c.(223-225)CAA>AAA	p.Q75K	CFHR4_uc009wyy.2_Missense_Mutation_p.Q74K|CFHR4_uc001gtp.2_Missense_Mutation_p.Q75K	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	75	Sushi 1.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						TCATTGCACACAAGATGGTTG	0.383			NA											41	74					2.24722e-20	3.71101e-20	0.01441	1	0
USH2A	7399	broad.mit.edu	37	1	215821947	215821947	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:215821947T>C	uc001hku.1	-	66	14892	c.14505A>G	c.(14503-14505)CCA>CCG	p.P4835P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4835	Extracellular (Potential).|Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCGATTTGTGGAGAGGACA	0.577			NA								HNSCC(13;0.011)			15	42					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228505241	228505241	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:228505241C>T	uc009xez.1	+	52	13682	c.13638C>T	c.(13636-13638)CCC>CCT	p.P4546P	OBSCN_uc001hsn.2_Silent_p.P4546P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4546	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGCAGCTCCCATGAGTGATG	0.662			NA											12	25					0	0	0.00245	0	0
ACTN2	88	broad.mit.edu	37	1	236891020	236891020	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:236891020C>G	uc001hyf.2	+	6	783	c.579C>G	c.(577-579)CAC>CAG	p.H193Q	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.H193Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	193	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCCACCGACACCGGCCTGACC	0.542			NA											11	65					0	0	0.010729	0	0
OR2M5	127059	broad.mit.edu	37	1	248309230	248309230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:248309230C>T	uc010pze.1	+	1	781	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGTACATACGGCCCACATC	0.517			NA											28	156					0	0	0.012213	0	0
AKR1C4	1109	broad.mit.edu	37	10	5255089	5255089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5255089C>A	uc001ihw.2	+	7	846	c.813C>A	c.(811-813)AGC>AGA	p.S271R		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	271	NADP.				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	TGGCCAAGAGCTACAATGAGC	0.547			NA											16	44					1.15919e-05	1.329e-05	0.008871	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435580	5435580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5435580C>T	uc001ihy.2	-	4	1281	c.1241G>A	c.(1240-1242)TGG>TAG	p.W414*	TUBAL3_uc001ihz.2_Nonsense_Mutation_p.W374*	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						TCTGAGGTACCAGTGCAGAAA	0.557			NA											8	25					0	0	0.00308	0	0
EPC1	80314	broad.mit.edu	37	10	32576084	32576084	+	Missense_Mutation	SNP	T	T	C	rs149122944	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:32576084T>C	uc001iwg.1	-	7	1364	c.1094A>G	c.(1093-1095)AAT>AGT	p.N365S	EPC1_uc001iwi.3_Missense_Mutation_p.N315S|EPC1_uc009xlt.2_Missense_Mutation_p.N315S|EPC1_uc001iwh.1_Missense_Mutation_p.N365S	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	365					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				ATCTTTAGCATTGAAGACTGG	0.473			NA											12	47					0	0	0.003163	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:37431050G>C	uc001iza.1	+	7	1156	c.1057G>C	c.(1057-1059)GCA>CCA	p.A353P		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGGCAGCAAAAGG	0.408			NA											3	46					0	0	0.009096	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820222	50820222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:50820222G>T	uc001jhw.2	+	1	1876	c.1436G>T	c.(1435-1437)CGT>CTT	p.R479L	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	479	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGCGCTCCCGTTCCGAGCGC	0.657			NA											7	22					0.00198382	0.00212552	0.001984	1	0
PSD	5662	broad.mit.edu	37	10	104176511	104176511	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:104176511C>A	uc001kvg.1	-	2	812	c.285G>T	c.(283-285)GGG>GGT	p.G95G	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G95G|PSD_uc001kvi.1_Silent_p.G95G|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	95	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGCTCTGGGCCCCGGGTGGGG	0.657			NA											20	36					1.96895e-08	2.54972e-08	0.00278	1	0
PCGF6	84108	broad.mit.edu	37	10	105110554	105110554	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:105110554C>T	uc001kwt.2	-	1	338	c.270G>A	c.(268-270)CTG>CTA	p.L90L	PCGF6_uc001kwu.2_Silent_p.L90L|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	90	Potential.|Glu-rich.				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		cttcctcctccagctcctctt	0.448			NA											2	3					0	0	0.004672	0	0
SORCS3	22986	broad.mit.edu	37	10	106737227	106737227	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:106737227G>T	uc001kyi.1	+	4	1157	c.930G>T	c.(928-930)GTG>GTT	p.V310V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	310	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACTGGGTGCTGGCCTACA	0.443	NSCLC(116;1497 1690 7108 13108 14106)		NA											8	22					3.07112e-06	3.66093e-06	0.010729	1	0
CHST15	51363	broad.mit.edu	37	10	125798150	125798150	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:125798150G>T	uc001lhl.2	-	4	1584	c.1071C>A	c.(1069-1071)GCC>GCA	p.A357A	CHST15_uc001lhm.2_Silent_p.A357A|CHST15_uc001lhn.2_Silent_p.A357A|CHST15_uc010que.1_Silent_p.A357A|CHST15_uc001lho.2_Silent_p.A357A	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	357	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						AGAACGTCCAGGCATTATTAT	0.547			NA											10	29					2.80697e-09	3.71511e-09	0.010729	1	0
STK32C	282974	broad.mit.edu	37	10	134040358	134040358	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:134040358C>A	uc001lle.1	-	4	725	c.585G>T	c.(583-585)CTG>CTT	p.L195L	STK32C_uc001lld.1_Silent_p.L78L|STK32C_uc010quu.1_Silent_p.L208L|STK32C_uc009ybc.1_Silent_p.L78L|STK32C_uc009ybd.1_Silent_p.L78L|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	195	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGATGTACAGCCTCACCG	0.627			NA											16	37					5.3912e-06	6.38432e-06	0.006122	1	0
CNGA4	1262	broad.mit.edu	37	11	6260686	6260686	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:6260686C>A	uc001mco.2	+	2	242	c.135C>A	c.(133-135)GTC>GTA	p.V45V	CNGA4_uc010raa.1_Silent_p.V5V|CNGA4_uc001mcn.2_Silent_p.V5V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	45	Helical; Name=H1; (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCCCAGTCATGTATAACC	0.498			NA											35	92					1.67305e-13	2.46843e-13	0.00623	1	0
CKAP5	9793	broad.mit.edu	37	11	46772739	46772739	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:46772739T>C	uc001ndi.1	-	40	5499	c.5389A>G	c.(5389-5391)ATG>GTG	p.M1797V	CKAP5_uc009ylg.1_Missense_Mutation_p.M1690V|CKAP5_uc001ndj.1_Missense_Mutation_p.M1737V|CKAP5_uc001ndh.1_Missense_Mutation_p.M726V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1797					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TGCTTCATCATCCGGCAGAGA	0.502	Ovarian(4;85 273 2202 4844 13323)		NA											9	34					0	0	0.008291	0	0
OR4A16	81327	broad.mit.edu	37	11	55110862	55110862	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55110862C>A	uc010rie.1	+	1	186	c.186C>A	c.(184-186)GCC>GCA	p.A62A		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TCTTCCTTGCCTACTTGTCAC	0.428			NA											35	80					1.02591e-13	1.52614e-13	0.010771	1	0
OR8K5	219453	broad.mit.edu	37	11	55927730	55927730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55927730C>A	uc010rja.1	-	1	64	c.64G>T	c.(64-66)GAG>TAG	p.E22*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453			NA											20	50					1.96895e-08	2.54972e-08	0.00278	1	0
OR8H1	219469	broad.mit.edu	37	11	56058108	56058108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56058108A>G	uc010rje.1	-	1	431	c.431T>C	c.(430-432)GTC>GCC	p.V144A		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GGGCCCAGTGACAAGAGCGCA	0.438			NA											7	24					0	0	0.00308	0	0
OR8K3	219473	broad.mit.edu	37	11	56086307	56086307	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56086307T>C	uc010rjf.1	+	1	525	c.525T>C	c.(523-525)AGT>AGC	p.S175S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ACGTCATTAGTCATTTCTACT	0.353			NA											16	27					0	0	0.008871	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059762	60059762	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:60059762G>A	uc001noz.2	+	2	116	c.106G>A	c.(106-108)GGT>AGT	p.G36S	MS4A4A_uc001npa.2_Missense_Mutation_p.G17S|MS4A4A_uc001npb.2_Missense_Mutation_p.G17S|MS4A4A_uc001npc.2_Missense_Mutation_p.G17S	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	36	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGCTGGCCCTGGTGTGCCCCA	0.488			NA											19	43					0	0	0.004656	0	0
NOX4	50507	broad.mit.edu	37	11	89069012	89069012	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:89069012C>A	uc001pct.2	-	17	1855	c.1616_splice	c.e17+1	p.G539_splice	NOX4_uc009yvr.2_Splice_Site_p.G514_splice|NOX4_uc001pcu.2_Splice_Site_p.G465_splice|NOX4_uc001pcw.2_Splice_Site_p.G232_splice|NOX4_uc001pcx.2_Splice_Site_p.G192_splice|NOX4_uc001pcv.2_Splice_Site_p.G499_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.G352_splice|NOX4_uc009yvp.2_Splice_Site_p.G303_splice|NOX4_uc010rtv.1_Splice_Site_p.G475_splice|NOX4_uc009yvq.2_Splice_Site_p.G515_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATAGTACTTACCCTCTGTTAT	0.274			NA											10	27					2.17888e-05	2.46665e-05	0.006214	1	0
FAT3	120114	broad.mit.edu	37	11	92085848	92085848	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:92085848T>C	uc001pdj.3	+	1	587	c.570T>C	c.(568-570)AAT>AAC	p.N190N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	190	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGTTCCAATGGAGAATTCT	0.403			NA								TCGA Ovarian(4;0.039)			5	20					0	0	0.000602	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123483506	123483506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:123483506G>A	uc001pyx.2	+	14	1857	c.1528G>A	c.(1528-1530)GGG>AGG	p.G510R	GRAMD1B_uc001pyw.2_Missense_Mutation_p.G517R|GRAMD1B_uc010rzw.1_Missense_Mutation_p.G470R|GRAMD1B_uc010rzx.1_Missense_Mutation_p.G470R|GRAMD1B_uc001pyy.2_Missense_Mutation_p.G201R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	510						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACAGCCCTGGGGGTTAGTGAA	0.547			NA											4	13					0	0	0.001168	0	0
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:132307171G>T	uc001qgs.2	-	4	659	c.609C>A	c.(607-609)AGC>AGA	p.S203R	OPCML_uc001qgu.2_Missense_Mutation_p.S196R|OPCML_uc010sck.1_Missense_Mutation_p.S203R|OPCML_uc001qgt.2_Missense_Mutation_p.S202R|OPCML_uc010scl.1_Missense_Mutation_p.S162R	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	203	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542			NA											13	41					2.27111e-07	2.85874e-07	0.013537	1	0
KCNA6	3742	broad.mit.edu	37	12	4920664	4920664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:4920664C>T	uc001qng.2	+	1	2323	c.1457C>T	c.(1456-1458)GCG>GTG	p.A486V		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	486						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GGGCAGCCTGCGCCGGACCTG	0.612			NA								HNSCC(72;0.22)			15	47					0	0	0.007413	0	0
PRR4	11272	broad.mit.edu	37	12	10999791	10999791	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:10999791T>C	uc001qyz.3	-	3	315	c.276A>G	c.(274-276)CAA>CAG	p.Q92Q	PRR4_uc009zhp.2_Silent_p.Q105Q|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal) isoform 2	92	Pro-rich.				visual perception	extracellular space					0						GGGGTGGTCGTTGCTGATTTT	0.542			NA											43	102					0	0	0.01441	0	0
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:11420862T>G	uc001qzs.2	-	3	359	c.321A>C	c.(319-321)GGA>GGC	p.G107G	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632			NA											4	219					0	0	0.001168	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:25398284C>A	uc001rgp.1	-	2	216	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	17					0.000602214	0.000649093	0.000602	1	0
BICD1	636	broad.mit.edu	37	12	32480566	32480566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:32480566G>T	uc001rku.2	+	5	1258	c.1177G>T	c.(1177-1179)GGG>TGG	p.G393W	BICD1_uc001rkv.2_Missense_Mutation_p.G393W|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	393	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGAGCTGGACGGGGAGAAGGG	0.582			NA											8	14					1.12685e-05	1.30021e-05	0.004482	1	0
GLI1	2735	broad.mit.edu	37	12	57861141	57861141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:57861141C>A	uc001snx.2	+	9	1016	c.938C>A	c.(937-939)TCA>TAA	p.S313*	GLI1_uc009zpq.2_Nonsense_Mutation_p.S185*	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	313	C2H2-type 3.				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)			AAGTCATACTCACGCCTCGAA	0.537	Pancreas(157;841 1936 10503 41495 50368)		NA											12	39					5.50884e-06	6.39736e-06	0.013537	1	0
NAV3	89795	broad.mit.edu	37	12	78401020	78401020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:78401020C>A	uc001syp.2	+	8	1875	c.1702C>A	c.(1702-1704)CCT>ACT	p.P568T	NAV3_uc001syo.2_Missense_Mutation_p.P568T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	568						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTTATCTAAGCCTATAACCAT	0.493			NA								HNSCC(70;0.22)			17	20					5.35267e-07	6.59918e-07	0.007413	1	0
DCN	1634	broad.mit.edu	37	12	91550864	91550864	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:91550864T>A	uc001tbs.2	-	4	734	c.640A>T	c.(640-642)AGC>TGC	p.S214C	DCN_uc001tbo.2_Missense_Mutation_p.S105C|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.S214C|DCN_uc001tbu.2_Missense_Mutation_p.S214C	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	214	LRR 7.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TGAGGAATGCTGGTGATATTG	0.378			NA											10	40					0	0	0.010729	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184568	130184568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:130184568G>C	uc009zyl.1	-	2	1083	c.755C>G	c.(754-756)ACA>AGA	p.T252R		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	252	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTGTGGCCTGTCCGGATCCC	0.617			NA											18	48					0	0	0.012319	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287666	29287666	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:29287666G>A	uc001usi.2	-	2	1181	c.211C>T	c.(211-213)CGT>TGT	p.R71C	SLC46A3_uc001usg.2_Translation_Start_Site|SLC46A3_uc001usj.2_Missense_Mutation_p.R71C|SLC46A3_uc001ush.2_Missense_Mutation_p.R71C|SLC46A3_uc001usk.2_Translation_Start_Site	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	71	Extracellular (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		AGATTAAAACGTGACACTTTT	0.338			NA											4	29					0	0	0.000602	0	0
LOC220429	220429	broad.mit.edu	37	13	50464887	50464887	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:50464887C>T	uc001vdk.2	+	1	343	c.161C>T	c.(160-162)GCT>GTT	p.A54V		NR_003268				Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).												0						GGATTTGTTGCTGTTCCCTTT	0.463			NA											3	6					0	0	0.009096	0	0
KLHL1	57626	broad.mit.edu	37	13	70681625	70681625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:70681625C>A	uc001vip.2	-	1	1001	c.207G>T	c.(205-207)TGG>TGT	p.W69C	KLHL1_uc010thm.1_Missense_Mutation_p.W69C|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	69	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		aagGCTTCTTCCAGAAAGTGC	0.443			NA											22	36					4.72057e-08	6.06931e-08	0.003954	1	0
NALCN	259232	broad.mit.edu	37	13	101728293	101728293	+	Splice_Site	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:101728293C>G	uc001vox.1	-	35	4075	c.3886_splice	c.e35-1	p.N1296_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATGCATTCTGAAATTTAA	0.313			NA											15	29					0	0	0.006122	0	0
CTSG	1511	broad.mit.edu	37	14	25043939	25043939	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:25043939G>A	uc001wpq.2	-	3	318	c.281C>T	c.(280-282)GCC>GTC	p.A94V		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	94	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GTGGCGGATGGCTCTGCGCGC	0.527			NA											16	42					0	0	0.00499	0	0
HEATR5A	25938	broad.mit.edu	37	14	31777181	31777181	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:31777181A>G	uc001wrf.3	-	24	3934	c.3857T>C	c.(3856-3858)ATG>ACG	p.M1286T	HEATR5A_uc010ami.2_Missense_Mutation_p.M1184T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1573							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TATGCTTTCCATGGTTGCATC	0.393			NA											4	6					0	0	0.001168	0	0
CLMN	79789	broad.mit.edu	37	14	95669278	95669278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:95669278C>A	uc001yef.2	-	9	2524	c.2408G>T	c.(2407-2409)GGT>GTT	p.G803V		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	803						integral to membrane	actin binding				0				Epithelial(152;0.193)		ACCCACACCACCCCTGCTGAG	0.627			NA											18	32					2.4624e-09	3.3077e-09	0.008871	1	0
C15orf2	23742	broad.mit.edu	37	15	24923451	24923451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:24923451G>T	uc001ywo.2	+	1	2911	c.2437G>T	c.(2437-2439)GCA>TCA	p.A813S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	813					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGCCTCTGCAGCATCGTTATC	0.522			NA											39	74					7.05121e-23	1.18619e-22	0.010771	1	0
GABPB1	2553	broad.mit.edu	37	15	50581768	50581768	+	Silent	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:50581768T>A	uc001zyb.2	-	7	1255	c.831A>T	c.(829-831)ACA>ACT	p.T277T	GABPB1_uc001zya.2_Silent_p.T265T|GABPB1_uc010ufg.1_Silent_p.T201T|GABPB1_uc001zyc.2_Silent_p.T265T|GABPB1_uc001zyd.2_Silent_p.T265T|GABPB1_uc001zye.2_Silent_p.T277T|GABPB1_uc001zyf.2_Silent_p.T264T	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	277	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						GAATTCCATCTGTAACTATTG	0.448			NA											16	48					0	0	0.006122	0	0
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:16149958A>T	uc010bvi.2	+	12	1658	c.1483A>T	c.(1483-1485)ATG>TTG	p.M495L	ABCC1_uc010bvj.2_Missense_Mutation_p.M495L|ABCC1_uc010bvk.2_Missense_Mutation_p.M495L|ABCC1_uc010bvl.2_Missense_Mutation_p.M495L|ABCC1_uc010bvm.2_Missense_Mutation_p.M495L|ABCC1_uc002del.3_Missense_Mutation_p.M379L|ABCC1_uc010bvn.2_Missense_Mutation_p.M358L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	495	Cytoplasmic.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGTGGCCCACATGAAGAGCAA	0.473			NA											4	35					0	0	0.009096	0	0
MAZ	4150	broad.mit.edu	37	16	29818879	29818879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:29818879C>T	uc002dty.2	+	2	941	c.773C>T	c.(772-774)GCC>GTC	p.A258V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.A235V|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.A258V|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_5'UTR|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	258					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						GGCGGCGCTGCCGCAGTGGCC	0.721	Colon(72;875 1167 15364 30899 37091)		NA											4	5					0	0	0.009096	0	0
MYH1	4619	broad.mit.edu	37	17	10415801	10415801	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:10415801C>A	uc002gmo.2	-	12	1165	c.1071G>T	c.(1069-1071)GGG>GGT	p.G357G	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	357	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCATCACAGCCCCTGTGAGCT	0.453			NA											13	36					0.000151284	0.000167063	0.001855	1	0
DSG4	147409	broad.mit.edu	37	18	28989467	28989467	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr18:28989467C>A	uc002kwq.2	+	13	2121	c.1986C>A	c.(1984-1986)GGC>GGA	p.G662G	DSG4_uc002kwr.2_Silent_p.G662G	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	662	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCCAGAAGGCCTGGGAACAA	0.532			NA											36	40					3.3946e-10	4.70021e-10	0.005524	1	0
THEG	51298	broad.mit.edu	37	19	375671	375671	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:375671A>T	uc002lol.2	-	1	339	c.300T>A	c.(298-300)CCT>CCA	p.P100P	THEG_uc002lom.2_Silent_p.P100P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	100					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCTGATTTCAGGAATGTCCT	0.662			NA											17	90					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	8997417	8997417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:8997417C>A	uc002mkp.2	-	59	41209	c.41005G>T	c.(41005-41007)GGC>TGC	p.G13669C	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G486C|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13671	Extracellular (Potential).|SEA 11.			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						CTTACCAGGCCCTGAAGGACC	0.552			NA											31	61					6.70999e-13	9.7403e-13	0.004289	1	0
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs144233170	by1000genomes	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:9015723C>T	uc002mkp.2	-	29	38304	c.38100G>A	c.(38098-38100)CCG>CCA	p.P12700P	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12702	SEA 5.|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						TGAGGGTGAACGGCACCAGGA	0.468			NA											5	141					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9060180	9060180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:9060180G>T	uc002mkp.2	-	3	27470	c.27266C>A	c.(27265-27267)ACA>AAA	p.T9089K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9091	Ser-rich.|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						ACCCCTTGATGTAGCCCCAGG	0.478			NA											10	58					6.40141e-05	7.11268e-05	0.010729	1	0
COL5A3	50509	broad.mit.edu	37	19	10102481	10102481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:10102481C>A	uc002mmq.1	-	23	2016	c.1930G>T	c.(1930-1932)GGA>TGA	p.G644*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	644	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCATGGTTTCCCTGCTGTCCC	0.552			NA											19	52					1.10923e-09	1.51259e-09	0.00278	1	0
ZNF491	126069	broad.mit.edu	37	19	11916992	11916992	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:11916992A>G	uc002mso.1	+	3	509	c.224A>G	c.(223-225)TAT>TGT	p.Y75C		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAGAAGCCATATAAACATAAA	0.393			NA											8	20					0	0	0.006214	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794303	15794303	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:15794303G>T	uc002nbl.2	+	7	709	c.648G>T	c.(646-648)GAG>GAT	p.E216D		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					TGCTCTGCAGGAGGCCCAGTG	0.517			NA											20	58					4.26978e-12	6.09968e-12	0.00333	1	0
EPS15L1	58513	broad.mit.edu	37	19	16504811	16504811	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:16504811G>A	uc002ndz.1	-	18	1923	c.1917C>T	c.(1915-1917)GGC>GGT	p.G639G	EPS15L1_uc002ndx.2_Silent_p.G639G|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.G529G|EPS15L1_uc010xpf.1_Silent_p.G542G|EPS15L1_uc002nea.1_Silent_p.G639G|EPS15L1_uc010eah.1_Silent_p.G641G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	639	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						GGAACGGGTCGCCTGGTTGGA	0.547			NA											28	53					0	0	0.007835	0	0
UNC13A	23025	broad.mit.edu	37	19	17778956	17778956	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:17778956C>A	uc002nhd.2	-	7	702	c.702G>T	c.(700-702)GAG>GAT	p.E234D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	146					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CATTGAGCTGCTCCAGCTTCT	0.557			NA											8	20					6.40141e-05	7.11268e-05	0.010729	1	0
ZNF257	113835	broad.mit.edu	37	19	22256306	22256306	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:22256306C>G	uc010ecx.2	+	3	335	c.166C>G	c.(166-168)CTG>GTG	p.L56V	ZNF257_uc010ecy.2_Missense_Mutation_p.L24V	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATCACCTGTCTGGAGCAAGG	0.423			NA											22	69					0	0	0.007291	0	0
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:46914959T>C	uc002pep.2	-	1	1961	c.1109A>G	c.(1108-1110)GAG>GGG	p.E370G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607			NA											4	103					0	0	0.009096	0	0
DHDH	27294	broad.mit.edu	37	19	49438276	49438276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:49438276G>T	uc002ple.1	+	2	150	c.110G>T	c.(109-111)CGC>CTC	p.R37L		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	37					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GTGGCGGCCCGCGATCTGAGC	0.632			NA											3	3					0.00024832	0.000272546	0.009096	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52003556	52003556	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:52003556T>A	uc002pwx.1	-	2	484	c.428_splice	c.e2-1	p.A143_splice	SIGLEC12_uc002pww.1_Silent_p.T24T|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like						cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGGACGCTGTGGAGAAAC	0.602			NA											16	34					0	0	0.008871	0	0
LILRB2	10288	broad.mit.edu	37	19	54782278	54782278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:54782278G>T	uc002qfb.2	-	7	1360	c.1094C>A	c.(1093-1095)CCA>CAA	p.P365Q	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P365Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P365Q|LILRB2_uc010yet.1_Missense_Mutation_p.P249Q|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	365	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGACGGAGTGGGGCATCAGC	0.582			NA											36	90					2.00842e-17	3.14361e-17	0.010771	1	0
ZNF776	284309	broad.mit.edu	37	19	58265941	58265941	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:58265941T>C	uc002qpx.2	+	3	1666	c.1443T>C	c.(1441-1443)ATT>ATC	p.I481I	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	481	C2H2-type 10; degenerate.				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;0.0256)		ATCAGCAGATTCACTCTGGAG	0.448			NA											3	52					0	0	0.009096	0	0
LTBP1	4052	broad.mit.edu	37	2	33572462	33572462	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:33572462G>C	uc002ros.2	+	26	3888	c.3888G>C	c.(3886-3888)GGG>GGC	p.G1296G	LTBP1_uc002rot.2_Silent_p.G970G|LTBP1_uc002rou.2_Silent_p.G969G|LTBP1_uc002rov.2_Silent_p.G916G|LTBP1_uc010ymz.1_Silent_p.G927G|LTBP1_uc010yna.1_Silent_p.G874G|LTBP1_uc010ynb.1_Silent_p.G193G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1295	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTCAGTGGGGTGTGTGGTG	0.517			NA											20	37					0	0	0.00333	0	0
STRN	6801	broad.mit.edu	37	2	37088298	37088298	+	Missense_Mutation	SNP	T	T	C	rs112595766		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:37088298T>C	uc002rpn.2	-	13	1655	c.1646A>G	c.(1645-1647)AAC>AGC	p.N549S	STRN_uc010ezx.2_Missense_Mutation_p.N512S	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	549	WD 2.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGGGTCGATGTTGGGATTAGT	0.403			NA											12	34					0	0	0.006122	0	0
ZEB2	9839	broad.mit.edu	37	2	145147526	145147526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:145147526G>T	uc002tvu.2	-	10	3617	c.3137C>A	c.(3136-3138)TCA>TAA	p.S1046*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.S1040*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.S1017*|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1046	C2H2-type 6.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGAAGCCTTGAGTGCTCGAT	0.478	Melanoma(33;1235 1264 5755 16332)		NA											10	29					2.80697e-09	3.71511e-09	0.010729	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711395	155711395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:155711395A>T	uc002tyv.1	+	3	1271	c.1076A>T	c.(1075-1077)AAA>ATA	p.K359I	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	359	Cytoplasmic (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)	TACAGTGTGAAAGAGCAGGAG	0.413			NA											17	45					0	0	0.00499	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406754	158406754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:158406754C>A	uc002tzk.3	-	4	938	c.695G>T	c.(694-696)TGG>TTG	p.W232L	ACVR1C_uc002tzl.3_Missense_Mutation_p.W152L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.W182L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	232	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						CTCACGAAACCAAGATCTTTC	0.428			NA											16	44					2.4624e-09	3.3077e-09	0.008871	1	0
PDE11A	50940	broad.mit.edu	37	2	178682641	178682641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:178682641C>T	uc002ulq.2	-	8	1906	c.1588G>A	c.(1588-1590)GTG>ATG	p.V530M	PDE11A_uc002ulp.2_Missense_Mutation_p.V86M|PDE11A_uc002ulr.2_Missense_Mutation_p.V280M|PDE11A_uc002uls.1_Missense_Mutation_p.V172M|PDE11A_uc002ult.1_Missense_Mutation_p.V280M|PDE11A_uc002ulu.1_Missense_Mutation_p.V172M	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	530	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGTTTAACACTTGAGCCACT	0.378			NA							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				5	23					0	0	0.00308	0	0
MARS2	92935	broad.mit.edu	37	2	198570447	198570447	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:198570447G>T	uc002uuq.2	+	1	361	c.318G>T	c.(316-318)GCG>GCT	p.A106A	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	106					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	CAGCTACCGCGGGCCTGGCCC	0.662			NA											15	26					2.23348e-06	2.69817e-06	0.004007	1	0
EPHA4	2043	broad.mit.edu	37	2	222294680	222294680	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:222294680G>T	uc002vmq.2	-	15	2730	c.2688C>A	c.(2686-2688)TCC>TCA	p.S896S	EPHA4_uc002vmr.2_Silent_p.S896S|EPHA4_uc010zlm.1_Silent_p.S837S|EPHA4_uc010zln.1_Silent_p.S896S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	896	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGCTGACCTGGAGCTCTCCG	0.488			NA											41	90					5.82388e-19	9.35981e-19	0.01441	1	0
SLC19A3	80704	broad.mit.edu	37	2	228552263	228552263	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:228552263T>C	uc002vpi.2	-	6	1430	c.1341A>G	c.(1339-1341)GCA>GCG	p.A447A	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A443A	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	447	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCAATTACTGCAAAATAGC	0.353			NA											7	19					0	0	0.004482	0	0
KIF1A	547	broad.mit.edu	37	2	241724433	241724433	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:241724433G>C	uc002vzy.2	-	7	839	c.693C>G	c.(691-693)GAC>GAG	p.D231E	KIF1A_uc010fzk.2_Missense_Mutation_p.D231E|KIF1A_uc002vzz.1_Missense_Mutation_p.D231E	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	231	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGTCTCTGCGTCATGGCGCT	0.607			NA											26	89					0	0	0.012213	0	0
JPH2	57158	broad.mit.edu	37	20	42788419	42788419	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:42788419G>A	uc002xli.1	-	2	1881	c.1008C>T	c.(1006-1008)CGC>CGT	p.R336R		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	336	MORN 8.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCTCCTCGCGGTGGCCGT	0.657			NA											10	27					0	0	0.013537	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273160	48273160	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:48273160A>C	uc002xuu.3	-	2	389	c.195T>G	c.(193-195)TAT>TAG	p.Y65*		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	65	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GCACCTGCTCATAAACCTGAG	0.468			NA											12	46					0	0	0.001855	0	0
NCF4	4689	broad.mit.edu	37	22	37266471	37266471	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:37266471G>T	uc003apy.3	+	5	541	c.357G>T	c.(355-357)CTG>CTT	p.L119L	NCF4_uc003apz.3_Silent_p.L119L	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	119	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						TGCTCAGCCTGCCGGTCTGGG	0.637			NA											17	36					6.44725e-10	8.85882e-10	0.014323	1	0
EIF3L	51386	broad.mit.edu	37	22	38259297	38259297	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:38259297C>G	uc003auf.2	+	7	611	c.524C>G	c.(523-525)CCC>CGC	p.P175R	EIF3L_uc003aue.1_Missense_Mutation_p.P175R|EIF3L_uc011ann.1_Intron|EIF3L_uc003aug.2_Missense_Mutation_p.P67R	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	175						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						GGTCCTGCTCCCCTTGAACTA	0.463			NA											21	39					0	0	0.00632	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41734353	41734353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:41734353G>C	uc003azw.2	+	8	835	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	207					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGATGACATCGAAACAGGTAA	0.607			NA											4	10					0	0	0.001984	0	0
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs139800936	by1000genomes	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:43870629C>T	uc011apv.1	+	4	643	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y	MPPED1_uc011apw.1_Silent_p.Y34Y|MPPED1_uc011apx.1_Translation_Start_Site|MPPED1_uc011apy.1_Silent_p.Y140Y|MPPED1_uc011apz.1_Silent_p.Y173Y	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582			NA											4	83					0	0	0.009096	0	0
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Silent	SNP	A	A	G	rs143130815	by1000genomes	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:43870650A>G	uc011apv.1	+	4	664	c.441A>G	c.(439-441)GCA>GCG	p.A147A	MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562			NA											4	113					0	0	0.009096	0	0
LRRC2	79442	broad.mit.edu	37	3	46593050	46593050	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:46593050G>A	uc010hji.2	-	2	396	c.32C>T	c.(31-33)TCT>TTT	p.S11F	LRRC2_uc003cpu.3_Missense_Mutation_p.S11F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	11										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCTGATGACAGAAATGTCGAA	0.413			NA											9	38					0	0	0.010729	0	0
COL7A1	1294	broad.mit.edu	37	3	48622506	48622506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:48622506G>A	uc003ctz.2	-	32	3939	c.3938C>T	c.(3937-3939)GCC>GTC	p.A1313V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1313	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATTCCCGGCGCGGCCAGG	0.682			NA											8	8					0	0	0.010729	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685429	50685429	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:50685429A>T	uc003day.1	+	13	1697	c.1101A>T	c.(1099-1101)AAA>AAT	p.K367N	MAPKAPK3_uc003daz.1_Missense_Mutation_p.K367N|MAPKAPK3_uc003dba.1_Missense_Mutation_p.K367N|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.K367N	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	367					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGAGGAGAAAAAAGCAGGCAG	0.552			NA											6	23					0	0	0.001984	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125843207	125843207	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:125843207C>A	uc003eim.1	-	16	2078	c.1888G>T	c.(1888-1890)GGC>TGC	p.G630C	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G529C	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	630	Aldehyde dehydrogenase.				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)	TGGCTCTTACCAGATCCTGGG	0.592			NA											20	85					1.50039e-11	2.12654e-11	0.012319	1	0
SLC9A9	285195	broad.mit.edu	37	3	143513867	143513867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:143513867G>A	uc003evn.2	-	4	691	c.509C>T	c.(508-510)ACT>ATT	p.T170I	SLC9A9_uc011bnk.1_Missense_Mutation_p.T44I	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	170	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGAGATGGCAGTTCCCAAGAA	0.418			NA											3	71					0	0	0.000602	0	0
BCHE	590	broad.mit.edu	37	3	165548239	165548239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:165548239C>A	uc003fem.3	-	2	743	c.583G>T	c.(583-585)GGT>TGT	p.G195C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	195					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCAAATAAACCCATGTTCCCT	0.443			NA											10	19					0.00829132	0.0086268	0.008291	1	0
SLC2A2	6514	broad.mit.edu	37	3	170732306	170732306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:170732306C>T	uc003fhe.1	-	3	632	c.323G>A	c.(322-324)GGA>GAA	p.G108E	SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	108	Helical; Name=2; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TGCAGTCATTCCACCAACTGC	0.448			NA											35	56					0	0	0.00874	0	0
ZNF639	51193	broad.mit.edu	37	3	179051622	179051622	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:179051622G>T	uc003fjq.1	+	6	1213	c.870G>T	c.(868-870)TGG>TGT	p.W290C	ZNF639_uc003fjr.1_Missense_Mutation_p.W290C	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	290	C2H2-type 4.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACCTCTATTGGTGTGAACAGT	0.418			NA											30	53					2.20474e-14	3.3919e-14	0.003755	1	0
LMLN	89782	broad.mit.edu	37	3	197751542	197751542	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:197751542C>T	uc011buo.1	+	14	1561	c.1539C>T	c.(1537-1539)AAC>AAT	p.N513N	LMLN_uc003fyt.2_Silent_p.N498N|LMLN_uc010iar.2_Silent_p.N550N|LMLN_uc010ias.2_Silent_p.N461N|LMLN_uc003fyu.2_Silent_p.N310N	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	513					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTTTAAGAACTATGGCGCTG	0.373			NA											7	13					0	0	0.00308	0	0
ZNF721	170960	broad.mit.edu	37	4	436574	436574	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:436574T>A	uc003gag.2	-	3	2373	c.1682A>T	c.(1681-1683)GAA>GTA	p.E561V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E593V|ZNF721_uc010ibe.2_Missense_Mutation_p.E549V	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	561						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TTTGCCACATTCTTCACATGT	0.413			NA											5	82					0	0	0.000602	0	0
BST1	683	broad.mit.edu	37	4	15716986	15716986	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:15716986T>A	uc003goh.3	+	5	806	c.611_splice	c.e5+2	p.G204_splice	BST1_uc003goi.2_Splice_Site_p.G15_splice	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor						humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						CATCAAAGGGTAAGAACACCA	0.393			NA											5	25					0	0	0.001984	0	0
ANK2	287	broad.mit.edu	37	4	114275061	114275061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:114275061A>T	uc003ibe.3	+	38	5387	c.5287A>T	c.(5287-5289)ATT>TTT	p.I1763F	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1778F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1730					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAACTCCCATTGGTTCCAT	0.473			NA											55	121					0	0	0.01441	0	0
PCDH18	54510	broad.mit.edu	37	4	138451547	138451547	+	Missense_Mutation	SNP	T	T	C	rs149770317		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:138451547T>C	uc003ihe.3	-	1	2083	c.1696A>G	c.(1696-1698)ATC>GTC	p.I566V	PCDH18_uc003ihf.3_Missense_Mutation_p.I559V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.I346V|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	566	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCGTCAATGATGGTGAGCACA	0.453			NA											33	81					0	0	0.00623	0	0
ASB5	140458	broad.mit.edu	37	4	177142395	177142395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:177142395A>T	uc003iuq.1	-	5	597	c.581T>A	c.(580-582)GTT>GAT	p.V194D	ASB5_uc003iup.1_Missense_Mutation_p.V141D	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	194	ANK 4.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTCTTGGTCAACATCTATGCC	0.438			NA											14	39					0	0	0.00499	0	0
ZNF622	90441	broad.mit.edu	37	5	16463792	16463793	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16463792_16463793CG>AA	uc003jfq.2	-	2	804_805	c.684_685CG>TT	c.(682-687)GACGAT>GATTAT	p.D229Y		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	229	Glu-rich.					cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TCCACCACATCGTCCATTGCTT	0.446			NA											40	213					0	0	0.004672	0	0
FAM134B	54463	broad.mit.edu	37	5	16616835	16616835	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16616835G>C	uc003jfs.2	-	1	284	c.246C>G	c.(244-246)CGC>CGG	p.R82R		NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	82					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						GCTCGTCGGCGCGGCAGCCCA	0.617			NA											3	1					0	0	0.000602	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:23527693T>C	uc003jgo.2	+	11	2678	c.2496T>C	c.(2494-2496)TAT>TAC	p.Y832Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGCCCTATGTCTGCAGGG	0.587			NA								HNSCC(3;0.000094)			7	141					0	0	0.001984	0	0
SPEF2	79925	broad.mit.edu	37	5	35700661	35700661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:35700661G>T	uc003jjo.2	+	16	2316	c.2205G>T	c.(2203-2205)CAG>CAT	p.Q735H	SPEF2_uc003jjq.3_Missense_Mutation_p.Q730H|SPEF2_uc003jjp.1_Missense_Mutation_p.Q221H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	735	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAGCACAGCTTCTGGAAG	0.383			NA											20	14					8.10497e-08	1.02739e-07	0.010504	1	0
VCAN	1462	broad.mit.edu	37	5	82816757	82816757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:82816757A>G	uc003kii.3	+	7	2988	c.2632A>G	c.(2632-2634)AAA>GAA	p.K878E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K878E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	878	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCCATGGAAAATTCACAAT	0.373			NA											19	63					0	0	0.00278	0	0
CAMK4	814	broad.mit.edu	37	5	110782425	110782425	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:110782425A>T	uc011cvj.1	+	7	600	c.501A>T	c.(499-501)CCA>CCT	p.P167P	CAMK4_uc003kpf.2_Silent_p.P167P|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	167	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCTCAAACCAGAGAATCTTC	0.368			NA											16	35					0	0	0.014323	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626445	140626445	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:140626445C>A	uc003lje.2	+	1	1299	c.1299C>A	c.(1297-1299)ACC>ACA	p.T433T		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	433	Extracellular (Potential).|Cadherin 4.				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)			GGCTGAAAACCGAGCAGAGCA	0.577			NA											24	57					4.26978e-12	6.09968e-12	0.00333	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140810956	140810956	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:140810956G>T	uc003lkt.1	+	1	799	c.630G>T	c.(628-630)CTG>CTT	p.L210L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L210L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	210	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCTGGTCCTTACGG	0.622			NA											23	37					0.00465635	0.0048893	0.004656	1	0
ARSI	340075	broad.mit.edu	37	5	149677134	149677134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:149677134G>T	uc003lrv.2	-	2	1942	c.1353C>A	c.(1351-1353)AAC>AAA	p.N451K		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	451						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTCCAGGTTCCACCAGC	0.632			NA											12	23					6.31663e-08	8.06378e-08	0.003163	1	0
NPM1	4869	broad.mit.edu	37	5	170818327	170818327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:170818327G>T	uc011dex.1	+	4	292	c.157G>T	c.(157-159)GCA>TCA	p.A53S	NPM1_uc003mbh.2_Missense_Mutation_p.A53S|NPM1_uc003mbi.2_Missense_Mutation_p.A53S|NPM1_uc003mbj.2_Missense_Mutation_p.A53S	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	53	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCTGGTGCAAAGGATGA	0.383			NA	T|F 	ALK|RARA|MLF1	NHL|APL|AML								29	38					6.00712e-18	9.48493e-18	0.012213	1	0
HRH2	3274	broad.mit.edu	37	5	175110541	175110541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:175110541G>T	uc003mdd.2	+	1	2078	c.305G>T	c.(304-306)TGC>TTC	p.C102F	HRH2_uc003mdc.3_Missense_Mutation_p.C102F	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	102	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTGATGCTCTGCACAGCCTCC	0.567			NA											12	34					5.50884e-06	6.39736e-06	0.013537	1	0
GRM6	2916	broad.mit.edu	37	5	178418469	178418469	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:178418469G>T	uc003mjr.2	-	3	992	c.813C>A	c.(811-813)CCC>CCA	p.P271P	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	271	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CCCGGGCGTTGGGCGTCTCCA	0.597			NA											32	79					6.05902e-23	1.02889e-22	0.003755	1	0
ITPR3	3710	broad.mit.edu	37	6	33658712	33658712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:33658712C>T	uc011drk.1	+	52	7270	c.7051C>T	c.(7051-7053)CGC>TGC	p.R2351C	ITPR3_uc003oey.2_Missense_Mutation_p.R438C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2351	Cytoplasmic (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						CCTCATCTACCGCGAGGAGAC	0.607			NA											10	46					0	0	0.00245	0	0
SNAP91	9892	broad.mit.edu	37	6	84301006	84301006	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:84301006A>T	uc011dze.1	-	21	2255	c.1938T>A	c.(1936-1938)TTT>TTA	p.F646L	SNAP91_uc011dzd.1_Missense_Mutation_p.F149L|SNAP91_uc003pkb.2_Missense_Mutation_p.F555L|SNAP91_uc003pkc.2_Missense_Mutation_p.F616L|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.F644L	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	646					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)		CACTACTTCCAAATGCATCTA	0.378			NA											21	21					0	0	0.00333	0	0
VNN2	8875	broad.mit.edu	37	6	133078832	133078832	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:133078832G>T	uc003qdt.2	-	1	202	c.191C>A	c.(190-192)GCG>GAG	p.A64E	VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.A64E|VNN2_uc003qdv.2_Missense_Mutation_p.A11E	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	64	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGCTTGATCGCTGTCTCCAG	0.433			NA											13	24					0.000308642	0.0003367	0.003163	1	0
BCLAF1	9774	broad.mit.edu	37	6	136582546	136582546	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:136582546C>A	uc003qgx.1	-	12	2867	c.2614G>T	c.(2614-2616)GGC>TGC	p.G872C	BCLAF1_uc011edb.1_Missense_Mutation_p.G151C|BCLAF1_uc003qgw.1_Missense_Mutation_p.G699C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G821C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G870C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	872					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCCCTCTGCCACGTTGAAAA	0.423	Colon(142;1534 1789 5427 7063 28491)		NA											21	127					3.5997e-14	5.49107e-14	0.014323	1	0
TMEM181	57583	broad.mit.edu	37	6	159029488	159029488	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:159029488G>A	uc003qrm.3	+	9	1219	c.1208G>A	c.(1207-1209)CGT>CAT	p.R403H	TMEM181_uc010kjr.1_Missense_Mutation_p.R234H	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	403					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CACGGGATTCGTGTCCAGGTG	0.602			NA											28	51					0	0	0.003271	0	0
FOXK1	221937	broad.mit.edu	37	7	4798734	4798734	+	Missense_Mutation	SNP	G	G	T	rs138350134		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:4798734G>T	uc003snc.1	+	6	1307	c.1297G>T	c.(1297-1299)GGC>TGC	p.G433C	FOXK1_uc003sna.1_Missense_Mutation_p.G270C	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	433					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCGCTCCGGCGGCCTGCAGAC	0.662			NA											33	58					7.93934e-33	1.38746e-32	0.00623	1	0
CPVL	54504	broad.mit.edu	37	7	29103807	29103807	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:29103807G>A	uc003szv.2	-	11	1126	c.1007C>T	c.(1006-1008)CCA>CTA	p.P336L	CPVL_uc003szw.2_Missense_Mutation_p.P336L|CPVL_uc003szx.2_Missense_Mutation_p.P336L	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	336					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TCTCACCTCTGGGAGTGACAA	0.438			NA											10	18					0	0	0.010729	0	0
HIP1	3092	broad.mit.edu	37	7	75221730	75221730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:75221730C>T	uc003uds.1	-	3	328	c.287G>A	c.(286-288)TGC>TAC	p.C96Y	HIP1_uc011kfz.1_5'UTR	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	96	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GAACACATGGCAGAACTTCCA	0.577			NA	T	PDGFRB	CMML								5	17					0	0	0.000602	0	0
ANKIB1	54467	broad.mit.edu	37	7	92000845	92000845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:92000845C>A	uc003ulw.2	+	11	1917	c.1541C>A	c.(1540-1542)ACT>AAT	p.T514N	ANKIB1_uc010lew.1_5'UTR	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	514							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTTATTAACTAACTCCAAG	0.398			NA											3	5					2.56e-06	3.072e-06	0.009096	1	0
FLNC	2318	broad.mit.edu	37	7	128470746	128470746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:128470746G>A	uc003vnz.3	+	1	264	c.55G>A	c.(55-57)GAC>AAC	p.D19N	FLNC_uc003voa.3_Missense_Mutation_p.D19N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	19	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGATGAGACAGACGAGATGCC	0.468			NA											8	15					0	0	0.006214	0	0
DEFA6	1671	broad.mit.edu	37	8	6783429	6783429	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:6783429C>T	uc003wqt.2	-	1	170	c.129G>A	c.(127-129)GGG>GGA	p.G43G		NM_001926	NP_001917	Q01524	DEF6_HUMAN	defensin, alpha 6 preproprotein	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGTCATTTGCCCCACGCTGCT	0.512			NA											3	9					0	0	0.004672	0	0
ADAM18	8749	broad.mit.edu	37	8	39494786	39494786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:39494786G>T	uc003xni.2	+	8	592	c.592G>T	c.(592-594)GAT>TAT	p.D198Y	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Intron	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	198	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCAGTATGATTATATGGG	0.194			NA											10	22					6.40141e-05	7.11268e-05	0.010729	1	0
HOOK3	84376	broad.mit.edu	37	8	42863022	42863022	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:42863022A>G	uc003xpr.2	+	18	1930	c.1688A>G	c.(1687-1689)CAG>CGG	p.Q563R		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	563	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATGAACTACAGAAGAAGAGA	0.373			NA	T	RET	papillary thyroid								16	41					0	0	0.00333	0	0
SNTG1	54212	broad.mit.edu	37	8	51363285	51363285	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:51363285A>T	uc010lxy.1	+	9	730	c.359A>T	c.(358-360)GAA>GTA	p.E120V	SNTG1_uc003xqs.1_Missense_Mutation_p.E120V|SNTG1_uc010lxz.1_Missense_Mutation_p.E120V|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	120	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGACATGAAGAAGTGGTGAGT	0.333			NA											4	18					0	0	0.000602	0	0
PLEC	5339	broad.mit.edu	37	8	145011192	145011192	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:145011192G>A	uc003zaf.1	-	5	971	c.801C>T	c.(799-801)CCC>CCT	p.P267P	PLEC_uc003zab.1_Silent_p.P130P|PLEC_uc003zac.1_Silent_p.P134P|PLEC_uc003zad.2_Silent_p.P130P|PLEC_uc003zae.1_Silent_p.P98P|PLEC_uc003zag.1_Silent_p.P108P|PLEC_uc003zah.2_Silent_p.P116P|PLEC_uc003zaj.2_Silent_p.P157P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	267	CH 1.|Globular 1.|Actin-binding.				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						GGGTCAGCTTGGGGTTGCCGT	0.617			NA											15	61					0	0	0.008871	0	0
LINGO2	158038	broad.mit.edu	37	9	27950644	27950644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:27950644C>A	uc003zqu.1	-	2	220	c.26G>T	c.(25-27)TGG>TTG	p.W9L	LINGO2_uc010mjf.1_Missense_Mutation_p.W9L|LINGO2_uc003zqv.1_Missense_Mutation_p.W9L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	9						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAATGGCTGCCAGCATGATAT	0.537			NA											10	21					5.50884e-06	6.39736e-06	0.013537	1	0
PGM5	5239	broad.mit.edu	37	9	70993155	70993155	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:70993155C>A	uc004agr.2	+	2	531	c.302C>A	c.(301-303)ACA>AAA	p.T101K		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	101					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ATCTTGTCGACACCTGCGGTC	0.473			NA											6	16					3.09899e-07	3.87373e-07	0.004482	1	0
PTCH1	5727	broad.mit.edu	37	9	98220527	98220527	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:98220527T>C	uc004avk.3	-	18	3124	c.2936A>G	c.(2935-2937)AAC>AGC	p.N979S	PTCH1_uc010mro.2_Missense_Mutation_p.N828S|PTCH1_uc010mrp.2_Missense_Mutation_p.N828S|PTCH1_uc010mrq.2_Missense_Mutation_p.N828S|PTCH1_uc004avl.3_Missense_Mutation_p.N828S|PTCH1_uc010mrr.2_Missense_Mutation_p.N913S|PTCH1_uc004avm.3_Missense_Mutation_p.N978S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	979	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGCAAGCCGTTGAGGTAGAA	0.562			NA							Basal_Cell_Nevus_syndrome				4	18					0	0	0.009096	0	0
LPAR1	1902	broad.mit.edu	37	9	113704290	113704290	+	Silent	SNP	T	T	C	rs145661148		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:113704290T>C	uc004bfa.2	-	4	459	c.204A>G	c.(202-204)CTA>CTG	p.L68L	LPAR1_uc011lwm.1_Silent_p.L69L|LPAR1_uc004bfb.2_Silent_p.L68L|LPAR1_uc004bfc.2_Silent_p.L68L|LPAR1_uc011lwn.1_Silent_p.L50L|LPAR1_uc011lwo.1_Silent_p.L69L|LPAR1_uc010mub.2_Silent_p.L68L	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	68	Helical; Name=1; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						CCATGACCAATAGGTTGGCCA	0.468	NSCLC(115;661 2323 9836 34256)		NA											14	46					0	0	0.00499	0	0
RC3H2	54542	broad.mit.edu	37	9	125613429	125613429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:125613429G>A	uc010mwc.1	-	20	3552	c.3311C>T	c.(3310-3312)CCA>CTA	p.P1104L	uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	1104						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CTGCTGTACTGGATGCCCATT	0.388			NA											26	64					0	0	0.004656	0	0
RS1	6247	broad.mit.edu	37	X	18675776	18675776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:18675776C>A	uc004cyo.2	-	2	97	c.62G>T	c.(61-63)GGA>GTA	p.G21V		NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	21					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					AGACGATAATCCCAATGTGGC	0.338			NA											10	38					4.3838e-07	5.44196e-07	0.001855	1	0
PHEX	5251	broad.mit.edu	37	X	22129677	22129677	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:22129677G>A	uc004dah.2	+	10	1375	c.1172G>A	c.(1171-1173)AGG>AAG	p.R391K	PHEX_uc011mjr.1_Missense_Mutation_p.R391K|PHEX_uc011mjs.1_Missense_Mutation_p.R294K	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	391	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						GAATTCTCAAGGGTAAGTTTA	0.383			NA											19	40					0	0	0.008871	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48858616	48858616	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:48858616C>G	uc004dly.1	-	1	60	c.25G>C	c.(25-27)GAG>CAG	p.E9Q	GRIPAP1_uc004dma.2_Missense_Mutation_p.E9Q	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	9	Potential.					early endosome				breast(2)|kidney(1)	3						CGCTGAAACTCCTCCTCAGAC	0.657			NA											13	61					0	0	0.004007	0	0
KIF4A	24137	broad.mit.edu	37	X	69595170	69595170	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:69595170C>A	uc004dyg.2	+	17	2022	c.1895C>A	c.(1894-1896)ACT>AAT	p.T632N	KIF4A_uc010nkw.2_Missense_Mutation_p.T632N|KIF4A_uc004dyf.1_Missense_Mutation_p.T632N	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	632	Potential.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						ACAGAGCGTACTGTCTCCAAA	0.413			NA											22	44					9.39395e-14	1.40909e-13	0.00632	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960178	117960178	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:117960178G>T	uc004equ.2	+	4	1444	c.971G>T	c.(970-972)GGT>GTT	p.G324V		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ACCAGTGGTGGTTCTGGCTAT	0.542			NA											30	65					1.36161e-19	2.2281e-19	0.004289	1	0
GRIA3	2892	broad.mit.edu	37	X	122561800	122561800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:122561800C>A	uc004etq.3	+	13	2179	c.1886C>A	c.(1885-1887)TCC>TAC	p.S629Y	GRIA3_uc004etr.3_Missense_Mutation_p.S629Y|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	629	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	AGATCACTCTCCGGGCGCATT	0.433			NA											25	63					1.61788e-16	2.5105e-16	0.012213	1	0
UTP14A	10813	broad.mit.edu	37	X	129040175	129040175	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:129040175C>A	uc004euz.2	+	1	17	c.-11C>A	c.(-13--9)AGCTG>AGATG		UTP14A_uc011mup.1_Translation_Start_Site|UTP14A_uc011muq.1_Translation_Start_Site	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,						rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						GTGAGAGAAGCTGGCTGCTGA	0.577			NA											28	92					3.21399e-22	5.35666e-22	0.004878	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993298	140993298	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993298G>A	uc004fbt.2	+	4	394	c.108G>A	c.(106-108)CAG>CAA	p.Q36Q	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	36							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCCCAGA	0.572			NA								HNSCC(15;0.026)			20	69					0	0	0.014323	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993708	140993708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993708C>A	uc004fbt.2	+	4	804	c.518C>A	c.(517-519)TCC>TAC	p.S173Y	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	173							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTCCTCCACTTTAGTG	0.493			NA								HNSCC(15;0.026)			21	60					1.37657e-19	2.23227e-19	0.012319	1	0
BGN	633	broad.mit.edu	37	X	152773722	152773722	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152773722C>A	uc004fhr.1	+	8	1098	c.926C>A	c.(925-927)TCC>TAC	p.S309Y	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	309	LRR 10.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TATCTGCACTCCAACAACATC	0.607			NA											48	151					1.64573e-32	2.84839e-32	0.01441	1	0
SLC6A8	6535	broad.mit.edu	37	X	152954185	152954185	+	Silent	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152954185C>G	uc004fib.3	+	1	434	c.156C>G	c.(154-156)CGC>CGG	p.R52R	SLC6A8_uc004fic.3_Silent_p.R52R|SLC6A8_uc011myx.1_5'Flank|PNCK_uc011myw.1_5'Flank|SLC6A8_uc010nui.1_5'Flank	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	52	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGCCGCCGCGCGAGACCTGGA	0.607			NA											4	11					0	0	0.009096	0	0
FUNDC2	65991	broad.mit.edu	37	X	154274857	154274857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:154274857C>T	uc004fmw.2	+	3	508	c.358C>T	c.(358-360)CAG>TAG	p.Q120*		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	120						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTCTCCTTCAGGTCTGTAT	0.438			NA											13	90					0	0	0.001855	0	0
INSC	387755	broad.mit.edu	37	11	15134077	15134077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:15134077delG	uc001mly.2	+	1	108	c.62delG	c.(61-63)TGGfs	p.W21fs	INSC_uc001mlz.2_5'Flank	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	21					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						TGGGGTCTATGGGGAGTCCAG	0.488			NA											13	43	---	---	---	---	NA	NA	NA	NA	NA
KCNA1	3736	broad.mit.edu	37	12	5021881	5021881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:5021881delC	uc001qnh.2	+	2	2442	c.1337delC	c.(1336-1338)TCCfs	p.S446fs		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	446					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGCCGCAGTTCCTCTACTATG	0.478			NA											53	135	---	---	---	---	NA	NA	NA	NA	NA
ANKS1B	56899	broad.mit.edu	37	12	99446957	99446958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:99446957_99446958insT	uc001tge.1	-	17	3172_3173	c.2755_2756insA	c.(2755-2757)ATCfs	p.I919fs	ANKS1B_uc001tgf.1_Frame_Shift_Ins_p.I495fs|ANKS1B_uc001tgk.2_Frame_Shift_Ins_p.I216fs|ANKS1B_uc001tgd.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgi.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009ztr.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgj.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgg.3_Frame_Shift_Ins_p.I88fs|ANKS1B_uc010svg.1_Frame_Shift_Ins_p.I114fs|ANKS1B_uc009zts.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgm.1_Frame_Shift_Ins_p.I145fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	919	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCTCCCAGATTTTTTTCAAC	0.371			NA											9	8	---	---	---	---	NA	NA	NA	NA	NA
ARHGAP5	394	broad.mit.edu	37	14	32561858	32561858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:32561858delA	uc001wrl.2	+	2	2222	c.1983delA	c.(1981-1983)GTAfs	p.V661fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	661					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCTTCTGTGTATTTAATTCCA	0.373	NSCLC(9;77 350 3443 29227 41353)		NA											19	51	---	---	---	---	NA	NA	NA	NA	NA
CRK	1398	broad.mit.edu	37	17	1326904	1326904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:1326904delC	uc002fsl.2	-	3	951	c.818delG	c.(817-819)GGTfs	p.G273fs	CRK_uc002fsm.2_3'UTR	NM_016823	NP_058431	P46108	CRK_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	273	SH3 2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			lung(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TTCCCACTGACCACTCACATT	0.483			NA											31	69	---	---	---	---	NA	NA	NA	NA	NA
RXFP1	59350	broad.mit.edu	37	4	159568146	159568146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:159568146delC	uc003ipz.2	+	16	1631	c.1549delC	c.(1549-1551)CCTfs	p.P517fs	RXFP1_uc011cja.1_Frame_Shift_Del_p.P412fs|RXFP1_uc010iqo.2_Frame_Shift_Del_p.P469fs|RXFP1_uc011cjb.1_Frame_Shift_Del_p.P415fs|RXFP1_uc010iqk.2_Frame_Shift_Del_p.P385fs|RXFP1_uc011cjc.1_Frame_Shift_Del_p.P436fs|RXFP1_uc011cjd.1_Frame_Shift_Del_p.P436fs|RXFP1_uc010iql.2_Frame_Shift_Del_p.P361fs|RXFP1_uc011cje.1_Frame_Shift_Del_p.P544fs|RXFP1_uc010iqm.2_Frame_Shift_Del_p.P484fs|RXFP1_uc011cjf.1_Frame_Shift_Del_p.P386fs|RXFP1_uc010iqn.2_Frame_Shift_Del_p.P462fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358			NA											15	32	---	---	---	---	NA	NA	NA	NA	NA
DCBLD1	285761	broad.mit.edu	37	6	117866753	117866754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:117866753_117866754insA	uc003pxs.2	+	14	1733_1734	c.1608_1609insA	c.(1606-1611)GATATGfs	p.D536fs	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_3'UTR|DCBLD1_uc003pxt.1_Frame_Shift_Ins_p.D191fs	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	536_537	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCACAAGTGATATGGCAGGTAA	0.411			NA											7	70	---	---	---	---	NA	NA	NA	NA	NA
ARID1B	57492	broad.mit.edu	37	6	157469810	157469811	+	Frame_Shift_Ins	INS	-	-	G	rs145635490	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:157469810_157469811insG	uc003qqn.2	+	8	2543_2544	c.2391_2392insG	c.(2389-2394)AGCGGCfs	p.S797fs	ARID1B_uc003qqo.2_Frame_Shift_Ins_p.S810fs|ARID1B_uc003qqp.2_Frame_Shift_Ins_p.S797fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.S239fs|ARID1B_uc010kjl.2_5'UTR	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	855_856					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCTACAGCGGCCCAGGGCC	0.53			NA											21	44	---	---	---	---	NA	NA	NA	NA	NA
C7orf45	136263	broad.mit.edu	37	7	129856175	129856176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:129856175_129856176insT	uc003vpp.2	+	3	647_648	c.600_601insT	c.(598-603)CACTGCfs	p.H200fs		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	200_201						integral to membrane					0	Melanoma(18;0.0435)					ACTGCCTCCACTGCAAAGCCTT	0.485			NA											23	78	---	---	---	---	NA	NA	NA	NA	NA
FAM47B	170062	broad.mit.edu	37	X	34962676	34962676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:34962676delG	uc004ddi.1	+	1	1746	c.1728delG	c.(1726-1728)AAGfs	p.K576fs		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	576										ovary(3)|breast(1)	4						TACTTGAAAAGCCTGATGAAC	0.458			NA											31	92	---	---	---	---	NA	NA	NA	NA	NA
OGT	8473	broad.mit.edu	37	X	70779527	70779527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:70779527delG	uc004eaa.1	+	14	2068	c.1851delG	c.(1849-1851)CAGfs	p.Q617fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Frame_Shift_Del_p.Q607fs|OGT_uc004eac.2_Frame_Shift_Del_p.Q478fs|OGT_uc004ead.2_Frame_Shift_Del_p.Q236fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	617					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					ATCTTTCTCAGGTAGATGAAA	0.358			NA											8	23	---	---	---	---	NA	NA	NA	NA	NA
