Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
SAMD11	148398	broad.mit.edu	37	1	861349	861349	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:861349C>A	uc001abw.1	+	2	108	c.28C>A	c.(28-30)CCT>ACT	p.P10T	SAMD11_uc001abv.1_Missense_Mutation_p.P10T	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	10						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCAGGTGCATCCTCCGATCTG	0.647		NA											7	73					0.000274275	0.000293152	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1149108	1149108	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:1149108C>T	uc001ade.2	-	2	208	c.203G>A	c.(202-204)GGG>GAG	p.G68E	TNFRSF4_uc001adf.2_5'UTR	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	68	TNFR-Cys 2.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGCCCGGCCCGCACGGACG	0.692		NA											3	7					0	0	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716862	13716862	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:13716862T>G	uc009vnz.1	+	2	379	c.349T>G	c.(349-351)TCT>GCT	p.S117A		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	PRAME family member 17	117											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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATATGGTCTGGAGCCAG	0.527		NA											21	123					0	0	0	0
HTR6	3362	broad.mit.edu	37	1	19992722	19992722	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:19992722T>C	uc001bcl.2	+	1	943	c.476T>C	c.(475-477)TTC>TCC	p.F159S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	159	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTCGCCTCCTTCCTGCCCCTG	0.716		NA											6	39					0	0	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407103	47407103	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:47407103C>T	uc001cqp.3	-	1	54	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CYP4A11_uc001cqq.2_Missense_Mutation_p.M1I|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	1					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	CAGAGACACTCATGGTGCAGC	0.597		NA											13	91					0	0	0	0
C1orf87	127795	broad.mit.edu	37	1	60505607	60505607	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:60505607C>T	uc001czs.1	-	5	821	c.729G>A	c.(727-729)AAG>AAA	p.K243K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	243							calcium ion binding			ovary(1)|breast(1)	2						GAGAACCCCTCTTAGAAAATC	0.408		NA											17	327					0	0	0	0
ROR1	4919	broad.mit.edu	37	1	64608106	64608106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:64608106G>A	uc001dbj.2	+	7	1346	c.947G>A	c.(946-948)AGC>AAC	p.S316N	ROR1_uc001dbi.3_Missense_Mutation_p.S316N|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	316	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TGTTATAACAGCACAGGTGTG	0.502		NA											3	76					0	0	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048267	90048267	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:90048267T>A	uc001dni.2	+	7	565	c.58T>A	c.(58-60)TTA>ATA	p.L20I	LRRC8B_uc001dnh.2_Missense_Mutation_p.L20I|LRRC8B_uc001dnj.2_Missense_Mutation_p.L20I	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	20						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTATCACATCTTAAAACCATG	0.483		NA											13	117					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103496741	103496741	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:103496741C>G	uc001dul.2	-	5	1029	c.711G>C	c.(709-711)GAG>GAC	p.E237D	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E237D|COL11A1_uc001dun.2_Missense_Mutation_p.E237D|COL11A1_uc009weh.2_Missense_Mutation_p.E237D	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	237	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACTATAATGCTCACAGTAGT	0.458		NA											8	25					0	0	0	0
TRIM46	80128	broad.mit.edu	37	1	155148051	155148051	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:155148051T>C	uc001fhs.1	+	2	336	c.253T>C	c.(253-255)TCC>CCC	p.S85P	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.S72P|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.S85P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.S62P|TRIM46_uc009wpg.1_Missense_Mutation_p.S72P|TRIM46_uc009wpf.2_Missense_Mutation_p.S72P|TRIM46_uc001fhv.3_Missense_Mutation_p.S72P|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	85						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCCACCCCTTCCACCCGCAG	0.682		NA											4	59					0	0	0	0
SLC9A11	284525	broad.mit.edu	37	1	173503733	173503733	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:173503733A>G	uc001giz.2	-	16	2287	c.1864T>C	c.(1864-1866)TAT>CAT	p.Y622H	SLC9A11_uc009wwe.2_Missense_Mutation_p.Y180H|SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	622	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ATCATAGGATAAATATATATC	0.259		NA											23	11					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197070787	197070787	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:197070787G>A	uc001gtu.2	-	18	7851	c.7594C>T	c.(7594-7596)CAT>TAT	p.H2532Y	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H380Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2532	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ACAGCAGAATGCCATTGTCTG	0.343		NA											14	94					0	0	0	0
NR5A2	2494	broad.mit.edu	37	1	200017505	200017505	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:200017505A>G	uc001gvb.2	+	5	875	c.669A>G	c.(667-669)CTA>CTG	p.L223L	NR5A2_uc001gvc.2_Silent_p.L177L|NR5A2_uc009wzh.2_Silent_p.L183L|NR5A2_uc010pph.1_Silent_p.L151L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	223					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					CCAAAGGCCTACCTCTGAACC	0.512		NA											19	112					0	0	0	0
AGAP6	414189	broad.mit.edu	37	10	51768861	51768861	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:51768861A>G	uc001jix.3	+	8	1374	c.976A>G	c.(976-978)ATT>GTT	p.I326V		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	326					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						TATGAAGAATATTCATAAAAA	0.433		NA											38	200					0	0	0	0
C10orf46	143384	broad.mit.edu	37	10	120513993	120513993	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:120513993G>A	uc001lds.1	-	1	766	c.282C>T	c.(280-282)TGC>TGT	p.C94C	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	94					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CGGCCGCGTCGCAGCTCTTCA	0.672		NA											4	22					0	0	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685722	121685722	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:121685722G>A	uc001leu.1	+	13	2368	c.2296G>A	c.(2296-2298)GAA>AAA	p.E766K	SEC23IP_uc010qtc.1_Missense_Mutation_p.E555K|SEC23IP_uc009xzk.1_RNA	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	766					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAATCTTTTGAAGTTGGCGC	0.418		NA											9	143					0	0	0	0
SPRYD5	84767	broad.mit.edu	37	11	55658878	55658878	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55658878C>A	uc010rip.1	+	7	1221	c.1129C>A	c.(1129-1131)CTC>ATC	p.L377I	SPRYD5_uc010riq.1_Missense_Mutation_p.L234I	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	377	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				AGAGGAGGGACTCTTTCTTCT	0.463		NA											8	49					2.32e-09	2.62e-09	1	0
OR5J2	282775	broad.mit.edu	37	11	55945016	55945016	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:55945016A>C	uc010rjb.1	+	1	923	c.923A>C	c.(922-924)AAA>ACA	p.K308T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					ATAGAAATGAAACATTTCCTC	0.388		NA											5	18					0	0	0	0
ACTN3	89	broad.mit.edu	37	11	66330402	66330402	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:66330402T>C	uc001oio.1	+	21	2542	c.2524T>C	c.(2524-2526)TTC>CTC	p.F842L	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	842					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						TGTAGCTTCCTTCAAGATCTT	0.612		NA											10	75					0	0	0	0
SAPS3	55291	broad.mit.edu	37	11	68341612	68341612	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68341612A>G	uc001onw.2	+	13	1646	c.1379A>G	c.(1378-1380)CAC>CGC	p.H460R	SAPS3_uc001onv.2_Missense_Mutation_p.H460R|SAPS3_uc001ony.3_Missense_Mutation_p.H460R|SAPS3_uc001onx.2_Missense_Mutation_p.H460R|SAPS3_uc009ysh.2_Missense_Mutation_p.H409R|SAPS3_uc001onu.2_Missense_Mutation_p.H409R|SAPS3_uc010rqc.1_Missense_Mutation_p.H228R|SAPS3_uc010rqd.1_Missense_Mutation_p.H172R|SAPS3_uc001onz.2_5'Flank	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	460					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TACATGGGACACCTAACGAGG	0.453		NA											29	71					0	0	0	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:68571514G>A	uc001oog.3	-	5	679	c.509C>T	c.(508-510)TCG>TTG	p.S170L	CPT1A_uc001oof.3_Missense_Mutation_p.S170L|CPT1A_uc009ysj.2_Missense_Mutation_p.S170L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	170	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.458		NA											7	54					0	0	0	0
NUMA1	4926	broad.mit.edu	37	11	71725761	71725761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:71725761G>A	uc001orl.1	-	15	2960	c.2788C>T	c.(2788-2790)CAG>TAG	p.Q930*	NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q493*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q493*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.Q930*|NUMA1_uc001oro.1_Nonsense_Mutation_p.Q930*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	930	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTGTTTCCTGCTGCTCACCT	0.607		NA	T	RARA	APL								23	66					0	0	0	0
CHCHD8	51287	broad.mit.edu	37	11	73584274	73584274	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:73584274G>A	uc001ouj.2	-	2	255	c.150C>T	c.(148-150)GAC>GAT	p.D50D	CHCHD8_uc009ytw.2_RNA	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	coiled-coil-helix-coiled-coil-helix domain	50	CHCH.										0	Breast(11;7.42e-05)					ATTGCCGCCAGTCCTGGTGCT	0.622		NA											8	78					0	0	0	0
OR10S1	219873	broad.mit.edu	37	11	123847715	123847715	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr11:123847715G>A	uc001pzm.1	-	1	684	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	228	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAATAACGATGAGGATGA	0.592		NA											5	46					0	0	0	0
CPNE8	144402	broad.mit.edu	37	12	39069531	39069531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:39069531C>T	uc001rls.1	-	18	1504	c.1420G>A	c.(1420-1422)GCA>ACA	p.A474T	CPNE8_uc001rlr.1_Missense_Mutation_p.A133T	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	474	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCAAATTCTGCTGGTCCAACA	0.318		NA											3	65					0	0	0	0
NUP37	79023	broad.mit.edu	37	12	102471261	102471261	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr12:102471261A>G	uc001tjc.2	-	6	626	c.561T>C	c.(559-561)AAT>AAC	p.N187N	NUP37_uc009zub.1_Silent_p.N187N	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	187	WD 3.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						GGATTGTTCCATTCTTCTCTG	0.363		NA											9	68					0	0	0	0
PELI2	57161	broad.mit.edu	37	14	56755320	56755320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:56755320G>T	uc001xch.2	+	4	761	c.475G>T	c.(475-477)GGA>TGA	p.G159*		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	159					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						ATTCGCCGCCGGATTTGACTC	0.438		NA											11	27					9.05e-12	1.03e-11	1	0
HIF1A	3091	broad.mit.edu	37	14	62203800	62203800	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62203800A>G	uc001xfq.2	+	9	1626	c.1222A>G	c.(1222-1224)ATC>GTC	p.I408V	HIF1A_uc001xfr.2_Missense_Mutation_p.I408V|HIF1A_uc001xfs.2_Missense_Mutation_p.I409V	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	408	N-terminal VHL recognition site.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGGAGACACAATCATATCTTT	0.393		NA											26	36					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62536483	62536483	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:62536483G>A	uc001xfu.1	+	2	883	c.686G>A	c.(685-687)CGT>CAT	p.R229H	SYT16_uc010tsd.1_Missense_Mutation_p.R229H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	229										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAATTCAGCCGTTCGTTGTTG	0.473		NA											14	102					0	0	0	0
MPP5	64398	broad.mit.edu	37	14	67787776	67787776	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:67787776A>G	uc001xjc.2	+	13	2006	c.1540A>G	c.(1540-1542)ACA>GCA	p.T514A	MPP5_uc001xjd.2_Missense_Mutation_p.T480A|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	514	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGCCTAGATACAACCCGGAG	0.438		NA											3	84					0	0	0	0
GALNTL1	57452	broad.mit.edu	37	14	69805441	69805441	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:69805441C>T	uc010aqu.1	+	10	1134	c.1041C>T	c.(1039-1041)TTC>TTT	p.F347F	GALNTL1_uc001xla.1_Silent_p.F347F|GALNTL1_uc001xlb.1_Silent_p.F347F	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	347	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GCCATGTCTTCAGGAAACGGC	0.483		NA											5	89					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72227761	72227761	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr15:72227761T>A	uc002atl.3	-	17	2916	c.2443A>T	c.(2443-2445)ACC>TCC	p.T815S	MYO9A_uc010biq.2_Missense_Mutation_p.T435S|MYO9A_uc002atn.1_Missense_Mutation_p.T796S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	815					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AGCAAGGAGGTGCCACTTGAT	0.393		NA											13	76					0	0	0	0
ABCA3	21	broad.mit.edu	37	16	2369816	2369816	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:2369816G>A	uc002cpy.1	-	8	1351	c.639C>T	c.(637-639)GCC>GCT	p.A213A	ABCA3_uc010bsk.1_Silent_p.A213A|ABCA3_uc010bsl.1_Silent_p.A213A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	213					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CATGCTGCACGGCCAGGAAGC	0.652		NA											10	66					0	0	0	0
ACSM5	54988	broad.mit.edu	37	16	20442585	20442585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:20442585G>A	uc002dhe.2	+	10	1397	c.1250G>A	c.(1249-1251)GGG>GAG	p.G417E		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	417					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GGAGAAGAGGGGAATGTTGCC	0.507		NA											18	151					0	0	0	0
ITFG1	81533	broad.mit.edu	37	16	47294551	47294551	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:47294551C>G	uc002eet.2	-	11	1188	c.1126G>C	c.(1126-1128)GAG>CAG	p.E376Q	ITFG1_uc010vgg.1_Missense_Mutation_p.E121Q|ITFG1_uc010vgh.1_Missense_Mutation_p.E263Q	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	376						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGACGCGCCTCTTCACAGCTT	0.438		NA											7	71					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66969474	66969474	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:66969474C>A	uc002eqr.2	+	1	1128	c.128C>A	c.(127-129)CCG>CAG	p.P43Q	CES2_uc002eqq.2_Missense_Mutation_p.P43Q|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	Error:Variant_position_missing_in_O00748_after_alignment					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGGACAGACCCGGGGCAGCCT	0.682		NA											10	78					2.18e-05	2.37e-05	1	0
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr16:67863714G>A	uc002eun.3	-	12	1689	c.1140C>T	c.(1138-1140)GAC>GAT	p.D380D	CENPT_uc002eum.3_Intron|CENPT_uc010vkc.1_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612		NA											4	143					0	0	0	0
USP6	9098	broad.mit.edu	37	17	5042701	5042701	+	Silent	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:5042701T>G	uc002gau.1	+	22	3460	c.1230T>G	c.(1228-1230)CGT>CGG	p.R410R	USP6_uc002gav.1_Silent_p.R410R|USP6_uc010ckz.1_Silent_p.R93R|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	410					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GGGCATCTCGTTTTTCCACGC	0.662		NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								6	53					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10398332	10398332	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10398332C>T	uc002gmo.2	-	37	5476	c.5382G>A	c.(5380-5382)GTG>GTA	p.V1794V	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794	Potential.					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						GCAGGTCCTTCACCGTCTGTT	0.557		NA											27	146					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:10408543C>T	uc002gmo.2	-	21	2466	c.2372G>A	c.(2371-2373)CGA>CAA	p.R791Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					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						GGCCTGGGTTCGGGTAATCAG	0.458		NA											34	49					0	0	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27937744	27937744	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:27937744G>A	uc002hei.2	+	8	977	c.864G>A	c.(862-864)CGG>CGA	p.R288R	ANKRD13B_uc002heh.2_Silent_p.R156R|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288											0						CCCGCACACGGACAGAACATC	0.542		NA											6	45					0	0	0	0
SLC39A6	25800	broad.mit.edu	37	18	33703502	33703502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr18:33703502C>T	uc010dmy.2	-	4	1386	c.1096G>A	c.(1096-1098)GTT>ATT	p.V366I	SLC39A6_uc002kzj.2_Missense_Mutation_p.V91I	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	366	Helical; Name=2; (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						AAAGTCCCAACGGCCAGTGCC	0.393		NA											22	190					0	0	0	0
PRR12	57479	broad.mit.edu	37	19	50099892	50099892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:50099892C>T	uc002poo.3	+	4	2300	c.2300C>T	c.(2299-2301)CCA>CTA	p.P767L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	475	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCCGCCCCCACCTCCCACG	0.721		NA											3	23					0	0	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245373	65245373	+	Silent	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:65245373C>G	uc010yqa.1	+	6	1525	c.1203C>G	c.(1201-1203)CTC>CTG	p.L401L	SLC1A4_uc010ypy.1_Silent_p.L181L|SLC1A4_uc010ypz.1_Silent_p.L103L|SLC1A4_uc010fcv.2_Silent_p.L401L|SLC1A4_uc002sdh.2_Silent_p.L181L	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	401					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	ACGTAGAGCTCAACGCAGGAC	0.488		NA											7	64					0	0	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459945	107459945	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:107459945A>C	uc002tdq.2	-	2	608	c.489T>G	c.(487-489)TTT>TTG	p.F163L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.F163L|ST6GAL2_uc002tds.3_Missense_Mutation_p.F163L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	163	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GTGCAGCCGGAAAAGCCCCCT	0.642		NA											19	174					0	0	0	0
LCT	3938	broad.mit.edu	37	2	136566025	136566025	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:136566025C>G	uc002tuu.1	-	8	3903	c.3892G>C	c.(3892-3894)GAG>CAG	p.E1298Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1298	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCAAAGCCTCATTGATGTAG	0.443		NA											25	230					0	0	0	0
ACVR1	90	broad.mit.edu	37	2	158636996	158636996	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:158636996C>T	uc002tzm.3	-	5	523	c.184G>A	c.(184-186)GGC>AGC	p.G62S	ACVR1_uc002tzn.3_Missense_Mutation_p.G62S|ACVR1_uc010fog.2_Missense_Mutation_p.G62S	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	62	Extracellular (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACGTGGAAGCCATCGTTGATG	0.552		NA											19	156					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163302670	163302670	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:163302670C>T	uc002uch.1	-	7	1624	c.1412G>A	c.(1411-1413)AGA>AAA	p.R471K	KCNH7_uc002uci.2_Missense_Mutation_p.R464K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	471	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	ATATGTTGTTCTGAAGTTTAT	0.363		NA											4	38					0	0	0	0
HOXD10	3236	broad.mit.edu	37	2	176982013	176982013	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:176982013A>G	uc002ukj.2	+	1	522	c.452A>G	c.(451-453)TAT>TGT	p.Y151C		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	151						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTCCCTGGATATTTTAGACTG	0.552		NA											413	142					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179586740	179586740	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:179586740T>C	uc010zfg.1	-	75	19142	c.18918A>G	c.(18916-18918)AAA>AAG	p.K6306K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2967K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7233							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGTTATCTTTTGACCAAG	0.418		NA											23	224					0	0	0	0
ANKAR	150709	broad.mit.edu	37	2	190592581	190592581	+	Splice_Site	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:190592581G>A	uc002uqw.1	+	12	2423	c.2423_splice	c.e12-1	p.D808_splice	ANKAR_uc002uqu.2_Splice_Site|ANKAR_uc002uqx.1_Splice_Site|ANKAR_uc002uqy.1_5'Flank	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCATTTGAAGATGTGTTGAA	0.343		NA											11	45					0	0	0	0
CUL3	8452	broad.mit.edu	37	2	225376094	225376094	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr2:225376094A>C	uc002vny.2	-	6	1244	c.860T>G	c.(859-861)ATG>AGG	p.M287R	CUL3_uc010zls.1_Missense_Mutation_p.M221R|CUL3_uc010fwy.1_Missense_Mutation_p.M293R	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	287					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTTTTCAACATATGTACTAG	0.323		NA											21	123					0	0	0	0
MN1	4330	broad.mit.edu	37	22	28193871	28193871	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:28193871G>A	uc003adj.2	-	1	3616	c.2661C>T	c.(2659-2661)GCC>GCT	p.A887A		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	887							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGGGTCCTGGGGCCCCAGGAG	0.711		NA	T	ETV6	AML|meningioma								14	18					0	0	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496	byFrequency	TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:29091840_29091841TG>CA	uc003adu.1	-	11	1188_1189	c.1116_1117CA>TG	c.(1114-1119)TCCAAG>TCTGAG	p.K373E	CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	373	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(2)|p.S372S(1)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCCAAAATCTTGGAGTGCCCAA	0.416		NA	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				3	51					0	0	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487710	32487710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr22:32487710G>A	uc003amc.2	+	11	1473	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	SLC5A1_uc011alz.1_Missense_Mutation_p.R287H	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	414	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GCCAAGGTCCGCAAGAGAGCA	0.522		NA											33	42					0	0	0	0
CNTN6	27255	broad.mit.edu	37	3	1320176	1320176	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:1320176A>G	uc003boz.2	+	5	705	c.438A>G	c.(436-438)CCA>CCG	p.P146P	CNTN6_uc010hbo.2_Silent_p.P141P|CNTN6_uc011asj.1_Silent_p.P74P|CNTN6_uc003bpa.2_Silent_p.P146P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	146	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCTGTGGCCCACCGCCACATT	0.453		NA											10	74					0	0	0	0
SATB1	6304	broad.mit.edu	37	3	18391087	18391087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:18391087G>A	uc003cbh.2	-	11	3602	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	SATB1_uc003cbi.2_Missense_Mutation_p.R655W|SATB1_uc003cbj.2_Missense_Mutation_p.R623W	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	623					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						GGGGGGAGCCGAGGGCCTGTC	0.463		NA											10	38					0	0	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751571	26751571	+	Silent	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:26751571G>A	uc003cdp.2	+	2	997	c.408G>A	c.(406-408)CTG>CTA	p.L136L	LRRC3B_uc003cdq.2_Silent_p.L136L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	136						integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						TCAATAACCTGAAGGCCAGGG	0.507		NA											23	31					0	0	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562601	28562601	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:28562601A>G	uc003ceh.2	+	9	1071	c.903A>G	c.(901-903)GGA>GGG	p.G301G	ZCWPW2_uc003cei.2_Silent_p.G301G|ZCWPW2_uc010hfo.2_Silent_p.G106G	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	301							zinc ion binding			ovary(2)	2						TAAATATGGGAGAAAAGGTAA	0.338		NA											10	20					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38760236	38760236	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:38760236A>C	uc003ciq.2	-	20	3589	c.3589T>G	c.(3589-3591)TTT>GTT	p.F1197V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1197	Helical; Name=S2 of repeat III; (Potential).|III.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGAACACAAAGATAAAGGTG	0.488		NA											7	71					0	0	0	0
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:45160021C>T	uc003com.2	-	2	310	c.175G>A	c.(175-177)GTC>ATC	p.V59I	CDCP1_uc003con.2_Missense_Mutation_p.V59I	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	59	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428		NA											4	94					0	0	0	0
DHX30	22907	broad.mit.edu	37	3	47888975	47888975	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:47888975C>T	uc003cru.2	+	13	2485	c.2059C>T	c.(2059-2061)CGC>TGC	p.R687C	DHX30_uc003crt.2_Missense_Mutation_p.R648C|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	687	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGCAGCAGCGCCTCCAGGA	0.632		NA											7	20					0	0	0	0
EPHA3	2042	broad.mit.edu	37	3	89390112	89390112	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:89390112T>G	uc003dqy.2	+	4	1086	c.861T>G	c.(859-861)TGT>TGG	p.C287W	EPHA3_uc003dqx.1_Missense_Mutation_p.C287W|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	287	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATATGAAGTGTGCTAAGTGCC	0.408		NA								TSP Lung(6;0.00050)			13	127					0	0	0	0
KIAA1407	57577	broad.mit.edu	37	3	113699548	113699548	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr3:113699548T>C	uc003eax.2	-	14	2403	c.2256A>G	c.(2254-2256)AAA>AAG	p.K752K	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	752										ovary(2)	2						GCTCTAGACCTTTTTTCCTTA	0.408		NA											3	253					0	0	0	0
TET2	54790	broad.mit.edu	37	4	106158042	106158042	+	Silent	SNP	T	T	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:106158042T>A	uc003hxk.2	+	3	3329	c.2943T>A	c.(2941-2943)ATT>ATA	p.I981I	TET2_uc011cez.1_Silent_p.I1002I|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.I981I|TET2_uc003hxi.1_Silent_p.I981I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	981					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGGCCAATTAAGGTGGAAC	0.473		NA	Mis N|F		MDS								18	47					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187540779	187540779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr4:187540779G>A	uc003izf.2	-	10	7149	c.6961C>T	c.(6961-6963)CAG>TAG	p.Q2321*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2321	Extracellular (Potential).|Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCAAACATCTGGTATGAGATT	0.463		NA								HNSCC(5;0.00058)			37	96					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13721156	13721156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:13721156C>A	uc003jfd.2	-	71	12274	c.12232G>T	c.(12232-12234)GGC>TGC	p.G4078C	DNAH5_uc003jfc.2_Missense_Mutation_p.G246C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4078	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACTTCCTGGCCCTGGCCCATG	0.483		NA							Kartagener_syndrome				17	116					5.01e-05	5.42e-05	1	0
MTMR12	54545	broad.mit.edu	37	5	32276834	32276834	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:32276834G>T	uc003jhq.2	-	2	266	c.96C>A	c.(94-96)AAC>AAA	p.N32K	MTMR12_uc010iuk.2_Missense_Mutation_p.N32K|MTMR12_uc010iul.2_Missense_Mutation_p.N32K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	32						cytoplasm	phosphatase activity			ovary(1)	1						CTTCCTTTTCGTTTGTGTGAA	0.343		NA											3	53					0.00909568	0.00952881	1	0
F2RL2	2151	broad.mit.edu	37	5	75914422	75914422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:75914422A>G	uc003kem.2	-	2	295	c.110T>C	c.(109-111)ATT>ACT	p.I37T	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.I15T	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	37					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGGTCTTAATGGGTAAGGT	0.393		NA											3	118					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	89941887	89941887	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:89941887G>A	uc003kju.2	+	16	3097	c.3001G>A	c.(3001-3003)GAT>AAT	p.D1001N	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1001	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAGAAATGATGACCCCAT	0.308		NA											5	7					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150925423	150925423	+	Silent	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:150925423A>G	uc003lue.3	-	9	5278	c.5265T>C	c.(5263-5265)GCT>GCC	p.A1755A	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1755	Cadherin 15.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACATAGGAGCATTGTCAT	0.403		NA											24	113					0	0	0	0
MAPK14	1432	broad.mit.edu	37	6	36070426	36070426	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:36070426G>T	uc003olp.2	+	10	1322	c.841G>T	c.(841-843)GCT>TCT	p.A281S	MAPK14_uc003olo.2_Missense_Mutation_p.G281C|MAPK14_uc003olq.2_Missense_Mutation_p.A281S|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Missense_Mutation_p.A204S	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1	281	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 activity|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						CAATCCCCTGGGTAAGTTGAC	0.373		NA											23	75					3.67e-16	4.27e-16	1	0
DST	667	broad.mit.edu	37	6	56494141	56494141	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:56494141T>C	uc003pdf.2	-	31	4311	c.4283A>G	c.(4282-4284)TAT>TGT	p.Y1428C	DST_uc003pcz.3_Missense_Mutation_p.Y1250C|DST_uc011dxj.1_Missense_Mutation_p.Y1279C|DST_uc011dxk.1_Missense_Mutation_p.Y1290C|DST_uc003pcy.3_Missense_Mutation_p.Y924C|DST_uc003pdb.2_Missense_Mutation_p.Y924C|DST_uc003pdc.3_Missense_Mutation_p.Y924C|DST_uc003pdd.3_Missense_Mutation_p.Y924C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1250					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGTTCTTTATACGTTTTAAA	0.383		NA											31	67					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152831446	152831446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:152831446C>T	uc010kiw.2	-	8	1065	c.463G>A	c.(463-465)GTG>ATG	p.V155M	SYNE1_uc003qot.3_Missense_Mutation_p.V162M|SYNE1_uc003qou.3_Missense_Mutation_p.V155M|SYNE1_uc010kjb.1_Missense_Mutation_p.V155M|SYNE1_uc003qpa.1_Missense_Mutation_p.V155M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTGTCCACGGAGGATGCG	0.473		NA								HNSCC(10;0.0054)			4	67					0	0	0	0
CNKSR3	154043	broad.mit.edu	37	6	154763230	154763230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:154763230C>T	uc003qpy.2	-	3	916	c.411G>A	c.(409-411)TGG>TGA	p.W137*		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	137	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACCGGTCCAGCCACGCCAGCA	0.562		NA											3	40					0	0	0	0
CCDC146	57639	broad.mit.edu	37	7	76909918	76909918	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:76909918A>G	uc003uga.2	+	14	1994	c.1867A>G	c.(1867-1869)ATG>GTG	p.M623V	CCDC146_uc010ldp.2_Missense_Mutation_p.M337V|CCDC146_uc003ugc.2_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	623	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAAGAGGAGATGGTGCAGCT	0.408		NA											5	13					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100683015	100683015	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:100683015C>T	uc003uxp.1	+	3	8371	c.8318C>T	c.(8317-8319)ACA>ATA	p.T2773I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2773	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCGTTTCAACAACTGCTGTT	0.488		NA											63	368					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	3265649	3265649	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:3265649T>G	uc011kwk.1	-	14	2236	c.1846A>C	c.(1846-1848)ATC>CTC	p.I616L	CSMD1_uc011kwj.1_Missense_Mutation_p.I8L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	616	Extracellular (Potential).|CUB 4.					integral to membrane		p.E616K(4)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTCCGAGATAATCAACCAG	0.403		NA											5	23					0	0	0	0
RP1L1	94137	broad.mit.edu	37	8	10466397	10466397	+	Silent	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:10466397C>A	uc003wtc.2	-	4	5440	c.5211G>T	c.(5209-5211)GGG>GGT	p.G1737G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1737					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCACTCCAGGCCCCTGGCTCA	0.657		NA											12	123					1.09e-07	1.21e-07	1	0
POTEA	340441	broad.mit.edu	37	8	43173712	43173712	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:43173712C>T	uc003xpz.1	+	9	1177	c.1134C>T	c.(1132-1134)AGC>AGT	p.S378S	POTEA_uc003xqa.1_Silent_p.S332S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	378										ovary(1)	1						AAAGAAAGAGCAGAAAGCATG	0.403		NA											11	71					0	0	0	0
SLC25A32	81034	broad.mit.edu	37	8	104415406	104415406	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:104415406G>A	uc003yll.2	-	4	841	c.538C>T	c.(538-540)CGT>TGT	p.R180C	SLC25A32_uc011lhr.1_Missense_Mutation_p.R48C	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	180	Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATAATCCACGCACACCTTCA	0.318		NA											3	27					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113347570	113347570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr8:113347570G>A	uc003ynu.2	-	45	7312	c.7153C>T	c.(7153-7155)CTC>TTC	p.L2385F	CSMD3_uc003yns.2_Missense_Mutation_p.L1587F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2345F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2281F|CSMD3_uc003ynw.1_Missense_Mutation_p.L96F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2385	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGATAACTGAGCACAAAAAAG	0.343		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	28					0	0	0	0
TLE4	7091	broad.mit.edu	37	9	82320810	82320810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr9:82320810G>T	uc004ald.2	+	10	1564	c.715G>T	c.(715-717)GAT>TAT	p.D239Y	TLE4_uc004alc.2_Missense_Mutation_p.D246Y|TLE4_uc010mpr.2_Missense_Mutation_p.D125Y|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.D214Y|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.D185Y	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GCAGGACAGCGATGGTGAGAA	0.398		NA											48	65					3.77e-20	4.4e-20	1	0
CDKL5	6792	broad.mit.edu	37	X	18593592	18593592	+	Silent	SNP	G	G	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:18593592G>C	uc004cym.2	+	5	517	c.264G>C	c.(262-264)GTG>GTC	p.V88V	CDKL5_uc004cyn.2_Silent_p.V88V	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	88	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TGTACTTGGTGTTTGAGTATG	0.378		NA											26	91					0	0	0	0
PDHA1	5160	broad.mit.edu	37	X	19377655	19377655	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:19377655G>A	uc004czg.3	+	11	1202	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	PDHA1_uc004czh.3_Missense_Mutation_p.A388T|PDHA1_uc011mjc.1_Missense_Mutation_p.A357T|PDHA1_uc011mjd.1_Missense_Mutation_p.A319T|PDHA1_uc010nfk.2_Missense_Mutation_p.A291T|PDHA1_uc010nfl.2_Missense_Mutation_p.A144T	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	353					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	TGCCCAGTTTGCCACGGCCGA	0.473		NA											42	93					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31950341	31950341	+	Silent	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:31950341T>C	uc004dda.1	-	46	6862	c.6618A>G	c.(6616-6618)CTA>CTG	p.L2206L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L862L|DMD_uc004dcx.2_Silent_p.L865L|DMD_uc004dcz.2_Silent_p.L2083L|DMD_uc004dcy.1_Silent_p.L2202L|DMD_uc004ddb.1_Silent_p.L2198L|DMD_uc010ngo.1_Silent_p.L115L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2206	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGTTCTTCTAGCCTGGAGA	0.303		NA											8	44					0	0	0	0
CCNB3	85417	broad.mit.edu	37	X	50028249	50028249	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:50028249C>T	uc004dox.3	+	3	384	c.86C>T	c.(85-87)CCA>CTA	p.P29L	CCNB3_uc004doy.2_Missense_Mutation_p.P29L|CCNB3_uc004doz.2_Missense_Mutation_p.P29L|CCNB3_uc010njq.2_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	29					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CATCATGACCCATCTGAAAAG	0.458		NA											6	75					0	0	0	0
ITIH5L	347365	broad.mit.edu	37	X	54783977	54783977	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:54783977T>C	uc004dtj.2	-	8	2560	c.2530A>G	c.(2530-2532)ATC>GTC	p.I844V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	844	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GACAAGAGGATTCCAGGCCCC	0.507		NA											37	113					0	0	0	0
FAM123B	139285	broad.mit.edu	37	X	63410937	63410937	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:63410937C>G	uc004dvo.2	-	2	2503	c.2230G>C	c.(2230-2232)GCC>CCC	p.A744P		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	744					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GTAGGGTAGGCCCTCCTGGGA	0.502		NA											26	58					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79988994	79988994	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:79988994T>C	uc004edt.2	-	12	1351	c.1088A>G	c.(1087-1089)GAT>GGT	p.D363G	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D192G|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Missense_Mutation_p.D33G|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Missense_Mutation_p.D33G|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_Missense_Mutation_p.D33G|BRWD3_uc004eea.2_Missense_Mutation_p.D33G|BRWD3_uc004eeb.2_5'UTR	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	363	WD 6.									ovary(4)	4						AACAACTTTATCCTAAGACAT	0.299		NA											6	108					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133770	91133770	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:91133770C>A	uc004efk.1	+	2	3376	c.2531C>A	c.(2530-2532)GCT>GAT	p.A844D	PCDH11X_uc004efl.1_Missense_Mutation_p.A844D|PCDH11X_uc004efo.1_Missense_Mutation_p.A844D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A844D|PCDH11X_uc004efm.1_Missense_Mutation_p.A844D|PCDH11X_uc004efn.1_Missense_Mutation_p.A844D|PCDH11X_uc004efh.1_Missense_Mutation_p.A844D|PCDH11X_uc004efj.1_Missense_Mutation_p.A844D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	844	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CACCTTAAGGCTGCTCAGAAA	0.403		NA											45	107					2.79e-13	3.22e-13	1	0
UPF3B	65109	broad.mit.edu	37	X	118985732	118985732	+	Silent	SNP	C	C	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:118985732C>T	uc004erz.1	-	2	338	c.261G>A	c.(259-261)ACG>ACA	p.T87T	UPF3B_uc004esa.1_Silent_p.T87T	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	87	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TTTTTTACCTCGTATCATTAG	0.318		NA											7	8					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123514615	123514615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:123514615G>A	uc004euj.2	-	31	8013	c.7949C>T	c.(7948-7950)GCC>GTC	p.A2650V	ODZ1_uc011muj.1_Missense_Mutation_p.A2656V|ODZ1_uc010nqy.2_Missense_Mutation_p.A2657V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2650	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GCGCTGTCTGGCAATCTCCAA	0.542		NA											4	195					0	0	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218939	130218939	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:130218939A>C	uc004evz.2	+	7	1201	c.856A>C	c.(856-858)AAT>CAT	p.N286H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.N274H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.N255H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.N150H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TGACAATCAGAATGTGCATGA	0.498		NA											63	268					0	0	0	0
ZIC3	7547	broad.mit.edu	37	X	136649736	136649736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:136649736G>A	uc004fak.2	+	1	1391	c.886G>A	c.(886-888)GTC>ATC	p.V296I		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	296	C2H2-type 2; atypical.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAACAACCACGTCTGCTACTG	0.612		NA											31	101					0	0	0	0
C1orf172	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr1:27278782_27278783delAT	uc001bni.1	-	2	178_179	c.89_90delAT	c.(88-90)TATfs	p.Y30fs		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	30	Pro-rich.									large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629		NA											37	54	---	---	---	---	NA	NA	NA	NA
LZTS2	84445	broad.mit.edu	37	10	102763471	102763475	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr10:102763471_102763475delAGTGG	uc001ksj.2	+	3	685_689	c.616_620delAGTGG	c.(616-621)AGTGGCfs	p.S206fs	LZTS2_uc010qpw.1_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksk.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksl.2_Frame_Shift_Del_p.S206fs|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	206_207	Ser-rich.|Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCTGGCATTTAGTGGCTGGGCCAGT	0.551		NA											44	220	---	---	---	---	NA	NA	NA	NA
KIAA0247	9766	broad.mit.edu	37	14	70175480	70175481	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr14:70175480_70175481insT	uc001xlk.2	+	5	861_862	c.545_546insT	c.(544-546)TATfs	p.Y182fs	KIAA0247_uc010aqz.2_Frame_Shift_Ins_p.Y157fs	NM_014734	NP_055549	Q92537	K0247_HUMAN	hypothetical protein LOC9766 precursor	182	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GAGGCTGTATATGGCAGTTCTG	0.589		NA											63	78	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr17:7574003delG	uc002gim.2	-	10	1218	c.1024delC	c.(1024-1026)CGAfs	p.R342fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.R210fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.R342fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.498		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	36	---	---	---	---	NA	NA	NA	NA
ADAMTSL5	339366	broad.mit.edu	37	19	1507298	1507299	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr19:1507298_1507299delTG	uc002ltd.2	-	9	1238_1239	c.794_795delCA	c.(793-795)ACAfs	p.T265fs	ADAMTSL5_uc010dsl.2_Frame_Shift_Del_p.T34fs|ADAMTSL5_uc010xgq.1_Frame_Shift_Del_p.T275fs	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	265						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CCTGGGGCCCTGTGTCTCGGGT	0.673		NA											11	75	---	---	---	---	NA	NA	NA	NA
UMODL1	89766	broad.mit.edu	37	21	43536021	43536025	+	Frame_Shift_Del	DEL	GTCAG	GTCAG	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr21:43536021_43536025delGTCAG	uc002zaf.1	+	14	2401_2405	c.2401_2405delGTCAG	c.(2401-2406)GTCAGGfs	p.V801fs	UMODL1_uc002zad.1_Frame_Shift_Del_p.V729fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.V857fs|UMODL1_uc002zag.1_Frame_Shift_Del_p.V929fs	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	801_802	Extracellular (Potential).|SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						AATCAAAAATGTCAGGTACTCAGAA	0.434		NA											14	88	---	---	---	---	NA	NA	NA	NA
MRPS30	10884	broad.mit.edu	37	5	44815046	44815046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr5:44815046delT	uc003joh.2	+	5	1100	c.1062delT	c.(1060-1062)CCTfs	p.P354fs		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	354					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					TTACTCGACCTTTTGTCTCCC	0.373		NA											7	396	---	---	---	---	NA	NA	NA	NA
ITPR3	3710	broad.mit.edu	37	6	33636910	33636910	+	Frame_Shift_Del	DEL	C	C	-	rs138892441		TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr6:33636910delC	uc011drk.1	+	18	2385	c.2166delC	c.(2164-2166)GACfs	p.D722fs		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	722	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						ACGCCCACGACGAGAATGTGC	0.607		NA											7	79	---	---	---	---	NA	NA	NA	NA
PMPCB	9512	broad.mit.edu	37	7	102952157	102952158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chr7:102952157_102952158insT	uc003vbl.2	+	10	1256_1257	c.1222_1223insT	c.(1222-1224)ATGfs	p.M408fs	PMPCB_uc003vbk.1_Frame_Shift_Ins_p.M408fs|PMPCB_uc003vbm.2_Frame_Shift_Ins_p.M317fs|PMPCB_uc010liv.2_Frame_Shift_Ins_p.M314fs|PMPCB_uc010liw.2_Intron|PMPCB_uc011kll.1_Frame_Shift_Ins_p.M303fs|PMPCB_uc011klm.1_Frame_Shift_Ins_p.M283fs	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	408					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						GAAAACAAACATGTTGTTGCAG	0.356		NA											7	33	---	---	---	---	NA	NA	NA	NA
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6477-01A-11D-1870-08	TCGA-CR-6477-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e02f3646-a500-4781-ad44-2f62661a883d	b9f8b4a2-7383-4f08-bd9d-8acb786f01c3	g.chrX:142605149delT	uc004fbw.2	-	1	159	c.71delA	c.(70-72)AATfs	p.N24fs		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	24										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.239		NA											7	259	---	---	---	---	NA	NA	NA	NA
