Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CELA3A	10136	broad.mit.edu	37	1	22329535	22329535	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:22329535G>T	uc001bfl.2	+	2	102	c.83G>T	c.(82-84)CGC>CTC	p.R28L	CELA3B_uc009vqf.2_Intron	NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	28					cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCTTCCAGCCGCGTTGTCCAT	0.572			NA											43	89					5.73376e-24	8.38828e-24	0.048971	1	0
ATP1A1	476	broad.mit.edu	37	1	116941354	116941354	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:116941354G>A	uc001ege.2	+	16	2575	c.2236G>A	c.(2236-2238)GCT>ACT	p.A746T	ATP1A1_uc010owv.1_Missense_Mutation_p.A715T|ATP1A1_uc010oww.1_Missense_Mutation_p.A746T|ATP1A1_uc010owx.1_Missense_Mutation_p.A715T|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	746	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CAAGCAAGCTGCTGACATGAT	0.468			NA											46	45					0	0	0.048971	0	0
POGZ	23126	broad.mit.edu	37	1	151378624	151378624	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:151378624C>A	uc001eyd.1	-	19	3193	c.2887G>T	c.(2887-2889)GGT>TGT	p.G963C	POGZ_uc001eye.1_Missense_Mutation_p.G910C|POGZ_uc010pdb.1_Missense_Mutation_p.G954C|POGZ_uc001eyf.1_Missense_Mutation_p.G919C|POGZ_uc010pdc.1_Missense_Mutation_p.G901C|POGZ_uc009wmv.1_Missense_Mutation_p.G868C|POGZ_uc010pdd.1_Missense_Mutation_p.G454C	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	963					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACCACTACCACCACCACCT	0.512			NA											28	197					2.47316e-13	3.10126e-13	0.015359	1	0
HRNR	388697	broad.mit.edu	37	1	152192190	152192190	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:152192190G>T	uc001ezt.1	-	3	1991	c.1915C>A	c.(1915-1917)CAT>AAT	p.H639N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	639	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCCATGCTGACCGTGG	0.567			NA											80	617					1.13981e-37	1.78308e-37	0.048971	1	0
SPRR3	6707	broad.mit.edu	37	1	152975887	152975887	+	Missense_Mutation	SNP	A	A	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:152975887A>C	uc001fax.3	+	3	541	c.391A>C	c.(391-393)ATC>CTC	p.I131L	SPRR3_uc001faz.3_Missense_Mutation_p.I131L|SPRR3_uc001fay.2_Missense_Mutation_p.I123L	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	131	12.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGGTGCCATCAAAGTTCC	0.547			NA											7	35					0	0	0.038147	0	0
PVRL4	81607	broad.mit.edu	37	1	161049727	161049727	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:161049727G>A	uc001fxo.2	-	2	391	c.92C>T	c.(91-93)GCG>GTG	p.A31V		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	31					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGCTCACCCGCGGGGCACCG	0.622	NSCLC(76;1160 1387 14476 16172 29359)		NA											27	118					0	0	0.017118	0	0
SCYL3	57147	broad.mit.edu	37	1	169839455	169839455	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:169839455C>A	uc001ggs.2	-	6	764	c.566G>T	c.(565-567)CGG>CTG	p.R189L	SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.R189L|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	189	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGGCATCCCGGGCATGTCC	0.398			NA											67	86					2.05912e-35	3.15865e-35	0.048971	1	0
CACNA1E	777	broad.mit.edu	37	1	181764126	181764126	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:181764126C>T	uc001gow.2	+	45	6190	c.6025C>T	c.(6025-6027)CGG>TGG	p.R2009W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1897W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1278W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2052	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GTCCCGTCGCCGGAGTTACCA	0.527			NA											6	83					0	0	0.006214	0	0
KCNT2	343450	broad.mit.edu	37	1	196342361	196342361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:196342361C>A	uc001gtd.1	-	14	1372	c.1312G>T	c.(1312-1314)GAA>TAA	p.E438*	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.E438*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.E438*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.E438*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.E413*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	438	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTAAACTCTTCTTCACAAACA	0.289			NA											35	139					1.8453e-21	2.55752e-21	0.039052	1	0
REN	5972	broad.mit.edu	37	1	204124295	204124295	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:204124295C>A	uc001haq.2	-	10	1114	c.1070G>T	c.(1069-1071)AGT>ATT	p.S357I	ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	357					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTTTTTACTACTGTAGGATTC	0.562			NA											20	98					4.72057e-08	5.56605e-08	0.021523	1	0
CR1L	1379	broad.mit.edu	37	1	207868033	207868033	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:207868033C>T	uc001hga.3	+	5	920	c.799C>T	c.(799-801)CCC>TCC	p.P267S	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	267	Sushi 4.					cytoplasm|extracellular region|membrane					0						CATGAAAGGGCCCTCCCATGT	0.498			NA											69	133					0	0	0.048971	0	0
USH2A	7399	broad.mit.edu	37	1	216144109	216144109	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:216144109G>A	uc001hku.1	-	36	7202	c.6815C>T	c.(6814-6816)ACG>ATG	p.T2272M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2272	Fibronectin type-III 9.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATAACTCGTGATAACACC	0.373			NA								HNSCC(13;0.011)			22	172					0	0	0.027356	0	0
RYR2	6262	broad.mit.edu	37	1	237823303	237823303	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:237823303T>A	uc001hyl.1	+	55	8347	c.8227T>A	c.(8227-8229)TAT>AAT	p.Y2743N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2743	Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATGGATTTATGGAGAAAT	0.308			NA											17	27					0	0	0.016522	0	0
OR2G3	81469	broad.mit.edu	37	1	247769715	247769715	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:247769715C>A	uc010pyz.1	+	1	828	c.828C>A	c.(826-828)CTC>CTA	p.L276L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTATCTCCCTCTTCTACACCA	0.438			NA											29	67					1.56442e-22	2.20695e-22	0.050027	1	0
OR2G6	391211	broad.mit.edu	37	1	248685488	248685488	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:248685488G>T	uc001ien.1	+	1	541	c.541G>T	c.(541-543)GTG>TTG	p.V181L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCTGTGAGGTGCCAGTGCT	0.517			NA											46	51					8.86878e-18	1.19766e-17	0.048971	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255962	15255962	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:15255962G>A	uc001iob.2	-	8	1632	c.1625C>T	c.(1624-1626)TCG>TTG	p.S542L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	542	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TACTGATCGCGACATCATACA	0.542			NA											6	222					0	0	0.038147	0	0
MBL2	4153	broad.mit.edu	37	10	54528269	54528269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:54528269C>T	uc001jjt.2	-	4	440	c.375G>A	c.(373-375)TGG>TGA	p.W125*		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	125					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						AGAAGGTGAGCCCTAAAATGT	0.383			NA											14	58					0	0	0.023175	0	0
PCDH15	65217	broad.mit.edu	37	10	55566840	55566840	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:55566840G>T	uc010qhq.1	-	36	4943	c.4548C>A	c.(4546-4548)ACC>ACA	p.T1516T	PCDH15_uc010qhr.1_Silent_p.T1511T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTTGAGCTGGTTTCATACT	0.353			NA								HNSCC(58;0.16)			5	24					8.12818e-05	8.98079e-05	0.02938	1	0
HPSE2	60495	broad.mit.edu	37	10	100503793	100503793	+	Missense_Mutation	SNP	A	A	G	rs147866530	byFrequency	TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:100503793A>G	uc001kpn.1	-	4	691	c.631T>C	c.(631-633)TAT>CAT	p.Y211H	HPSE2_uc009xwc.1_Missense_Mutation_p.Y201H|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	211					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCAAAGTTATAAAGTTTGTCT	0.408			NA											11	24					0	0	0.024245	0	0
SEC23IP	11196	broad.mit.edu	37	10	121662475	121662475	+	Silent	SNP	T	T	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:121662475T>G	uc001leu.1	+	3	933	c.861T>G	c.(859-861)CCT>CCG	p.P287P	SEC23IP_uc010qtc.1_Silent_p.P76P	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	287	Interaction with SEC23A.				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)		TGTGGATGCCTTTTAGTGTGT	0.378			NA											13	45					0	0	0.043863	0	0
DMBT1	1755	broad.mit.edu	37	10	124351977	124351977	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:124351977G>C	uc001lgk.1	+	20	2472	c.2366G>C	c.(2365-2367)GGC>GCC	p.G789A	DMBT1_uc001lgl.1_Missense_Mutation_p.G779A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G789A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G402A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	789	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGGTTTGGCCAGGGCTCA	0.607	Ovarian(182;93 2026 18125 22222 38972)		NA											62	181					0	0	0.048971	0	0
EBF3	253738	broad.mit.edu	37	10	131665437	131665437	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr10:131665437C>A	uc001lki.1	-	10	1039	c.980G>T	c.(979-981)TGC>TTC	p.C327F		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	336	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGCACCTTTGCAGAACTGCTT	0.587			NA											12	30					7.93312e-07	9.21642e-07	0.020292	1	0
ODF3	113746	broad.mit.edu	37	11	198578	198578	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:198578T>C	uc001lob.2	+	5	821	c.527T>C	c.(526-528)CTA>CCA	p.L176P	ODF3_uc010qvk.1_Missense_Mutation_p.L176P|ODF3_uc001loc.2_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	176					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGCGACGACCTACACAAGGCA	0.627			NA											3	100					0	0	0.009096	0	0
PAX6	5080	broad.mit.edu	37	11	31812372	31812372	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:31812372T>A	uc001mtd.3	-	11	1959	c.1069A>T	c.(1069-1071)ATG>TTG	p.M357L	PAX6_uc001mte.3_Missense_Mutation_p.M357L|PAX6_uc001mtg.3_Missense_Mutation_p.M371L|PAX6_uc001mtf.3_Missense_Mutation_p.M357L|PAX6_uc001mth.3_Missense_Mutation_p.M357L|PAX6_uc009yjr.2_Missense_Mutation_p.M357L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	357	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					GTGGGCAGCATGCAGGAGTAT	0.587			NA							Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				14	52					0	0	0.0333	0	0
OR4A5	81318	broad.mit.edu	37	11	51411684	51411684	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:51411684T>A	uc001nhi.1	-	1	712	c.712A>T	c.(712-714)AGC>TGC	p.S238C		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				CTGCCGGAGCTGCAGGTAGAC	0.403			NA											19	64					0	0	0.012319	0	0
OR1S1	219959	broad.mit.edu	37	11	57982442	57982442	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:57982442C>G	uc010rkc.1	+	1	226	c.226C>G	c.(226-228)CTT>GTT	p.L76V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GTATCTCTTCCTTGCCAATCT	0.443			NA											58	170					0	0	0.048971	0	0
CPT1A	1374	broad.mit.edu	37	11	68579920	68579920	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:68579920C>G	uc001oog.3	-	3	436	c.266G>C	c.(265-267)CGG>CCG	p.R89P	CPT1A_uc001oof.3_Missense_Mutation_p.R89P|CPT1A_uc009ysj.2_Missense_Mutation_p.R89P	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	89	Mitochondrial intermembrane (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)	TTCCAGAGTCCGATTGATTTT	0.453			NA											28	86					0	0	0.025465	0	0
FGF4	2249	broad.mit.edu	37	11	69588224	69588224	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:69588224C>T	uc001opg.1	-	3	793	c.474G>A	c.(472-474)AAG>AAA	p.K158K	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	fibroblast growth factor 4 precursor	158					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding				0	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGAGAATCTCCTTGAACGTGC	0.572			NA											11	156					0	0	0.013537	0	0
TRPC6	7225	broad.mit.edu	37	11	101375285	101375285	+	Silent	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:101375285A>G	uc001pgk.3	-	2	840	c.415T>C	c.(415-417)TTG>CTG	p.L139L	TRPC6_uc009ywy.2_Silent_p.L139L|TRPC6_uc009ywz.1_Silent_p.L139L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	139	Cytoplasmic (Potential).|ANK 2.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCACTGCCAACTGTAGGGCA	0.448	Colon(166;1315 1927 11094 12848 34731)		NA											24	58					0	0	0.021523	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374709	117374709	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:117374709G>T	uc001prh.1	-	11	2392	c.2390C>A	c.(2389-2391)CCT>CAT	p.P797H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	737	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGGGGCACAGGGTGGTACTG	0.642			NA											47	122					3.00063e-23	4.34953e-23	0.048971	1	0
RNF26	79102	broad.mit.edu	37	11	119206355	119206355	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:119206355G>T	uc001pwh.2	+	1	1119	c.523G>T	c.(523-525)GGG>TGG	p.G175W		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	175	Leu-rich.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TGCAGTGACCGGGCCTCTGTG	0.587			NA											14	47					9.16793e-09	1.10575e-08	0.0333	1	0
TECTA	7007	broad.mit.edu	37	11	120989283	120989283	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:120989283G>A	uc010rzo.1	+	6	1059	c.1059G>A	c.(1057-1059)TTG>TTA	p.L353L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	353	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACAGTGTTTGCAGACTTCCA	0.562			NA											7	126					0	0	0.006214	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr11:124857495A>C	uc001qbm.3	+	8	1632	c.1373A>C	c.(1372-1374)CAC>CCC	p.H458P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418			NA											3	81					0	0	0.009096	0	0
ETV6	2120	broad.mit.edu	37	12	12022897	12022897	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:12022897A>G	uc001qzz.2	+	5	1277	c.1003A>G	c.(1003-1005)ATA>GTA	p.I335V	ETV6_uc001raa.1_Missense_Mutation_p.I128V	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	335						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATTGGGAGAATAGCAGGTGA	0.572			NA	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								25	58					0	0	0.024334	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	27					1.12685e-05	1.28088e-05	0.047766	1	0
SYT10	341359	broad.mit.edu	37	12	33579161	33579161	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:33579161G>C	uc001rll.1	-	2	718	c.421C>G	c.(421-423)CCA>GCA	p.P141A	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	141	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTTCTGCTGGGATGTCAGGG	0.388			NA											32	160					0	0	0.025465	0	0
SMARCD1	6602	broad.mit.edu	37	12	50481255	50481255	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:50481255G>A	uc001rvx.3	+	5	811	c.641G>A	c.(640-642)CGG>CAG	p.R214Q	SMARCD1_uc010smo.1_Missense_Mutation_p.R214Q|SMARCD1_uc001rvy.3_Missense_Mutation_p.R214Q|SMARCD1_uc009zlp.2_Intron	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	214	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						GTAGAAGGACGGCTCCTGGAG	0.532			NA											52	96					0	0	0.048971	0	0
OAS2	4939	broad.mit.edu	37	12	113435349	113435349	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:113435349C>A	uc001tuj.2	+	4	792	c.652C>A	c.(652-654)CCC>ACC	p.P218T	OAS2_uc001tui.1_Missense_Mutation_p.P218T	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	218	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CAAGGATTTACCCTCGCTGTC	0.488	Pancreas(199;709 2232 18410 33584 35052)		NA											20	47					2.44723e-14	3.16937e-14	0.024334	1	0
C12orf52	84934	broad.mit.edu	37	12	113624562	113624562	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:113624562C>T	uc001tur.1	+	3	479	c.11C>T	c.(10-12)CCC>CTC	p.P4L	DDX54_uc001tuq.3_5'Flank|DDX54_uc001tup.2_5'Flank|C12orf52_uc009zwg.1_Missense_Mutation_p.P4L|C12orf52_uc001tus.1_Missense_Mutation_p.P4L|C12orf52_uc001tut.1_Missense_Mutation_p.P28L	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	4					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						ATGAAGACCCCCGTGGAGCTG	0.647			NA											5	32					0	0	0.02938	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135237	126135237	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:126135237G>A	uc001uhe.1	+	7	1645	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q	TMEM132B_uc001uhf.1_Missense_Mutation_p.R58Q	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	546	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCCTACCCGGGAAAGCGAT	0.532			NA											14	39					0	0	0.038395	0	0
POTEG	404785	broad.mit.edu	37	14	19553672	19553672	+	Missense_Mutation	SNP	C	C	A	rs146829084	byFrequency	TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr14:19553672C>A	uc001vuz.1	+	1	308	c.256C>A	c.(256-258)CAC>AAC	p.H86N	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										ovary(1)	1						TTCTGGAGACCACGACGACTC	0.607			NA											12	275					4.87955e-14	6.26805e-14	0.027356	1	0
P704P	641455	broad.mit.edu	37	14	20019965	20019965	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr14:20019965G>T	uc001vwc.3	-	1	308	c.256C>A	c.(256-258)CAC>AAC	p.H86N	P704P_uc001vwb.3_RNA	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	prostate-specific P704P	86											0						GAGTCGTCGTGGTCTCCAGAA	0.612			NA											34	525					3.85841e-42	6.15787e-42	0.048971	1	0
FAM179B	23116	broad.mit.edu	37	14	45433134	45433134	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr14:45433134G>C	uc001wvv.2	+	1	1719	c.1510G>C	c.(1510-1512)GAG>CAG	p.E504Q	FAM179B_uc001wvw.2_Missense_Mutation_p.E504Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.E504Q|FAM179B_uc001wvu.2_Missense_Mutation_p.E504Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	504	HEAT 3.						binding			skin(2)|upper_aerodigestive_tract(1)	3						CTATCCTAGTGAGGATTTTGA	0.473			NA											40	113					0	0	0.045515	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256365	69256365	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr14:69256365T>A	uc001xkh.1	-	2	1032	c.902A>T	c.(901-903)GAC>GTC	p.D301V	ZFP36L1_uc001xki.1_Missense_Mutation_p.D301V	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	301					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCCTCCTGGTCCGAGAGAGA	0.632			NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	112					0	0	0.048971	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953662	72953662	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr15:72953662C>T	uc010uks.1	+	8	663	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	208	Potential.										0						CATAAAGGAGCGGGCGCTGCT	0.592			NA											19	149					0	0	0.037714	0	0
RGMA	56963	broad.mit.edu	37	15	93595608	93595608	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr15:93595608C>A	uc002bss.1	-	3	532	c.260G>T	c.(259-261)CGG>CTG	p.R87L	RGMA_uc002bsq.1_Missense_Mutation_p.R71L|RGMA_uc010boi.1_5'UTR|RGMA_uc002bsr.1_5'UTR|RGMA_uc010urc.1_Missense_Mutation_p.R95L	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	87					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCCGTCCGCCGCGTGCACAG	0.677			NA											8	16					1.12685e-05	1.28088e-05	0.047766	1	0
TPSD1	23430	broad.mit.edu	37	16	1308080	1308080	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr16:1308080C>A	uc002clb.1	+	4	550	c.541C>A	c.(541-543)CCG>ACG	p.P181T	TPSD1_uc010brm.1_Missense_Mutation_p.P110T	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	181	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GCCGCCATACCCGCTGAAGGA	0.657			NA											3	9					0.004672	0.00485642	0.004672	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748389	20748389	+	Missense_Mutation	SNP	G	G	A	rs139713563	byFrequency	TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr16:20748389G>A	uc002dho.2	-	4	1013	c.875C>T	c.(874-876)GCG>GTG	p.A292V	THUMPD1_uc010vaz.1_Missense_Mutation_p.A145V|THUMPD1_uc002dhp.2_Missense_Mutation_p.A292V	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	292											0						TGATTTGTCCGCAGATTCCAG	0.448			NA											22	76					0	0	0.055883	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834870	24834870	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr16:24834870C>T	uc002dmm.2	+	25	5745	c.5631C>T	c.(5629-5631)TCC>TCT	p.S1877S	TNRC6A_uc010bxs.2_Silent_p.S1624S|TNRC6A_uc002dmn.2_Silent_p.S1575S|TNRC6A_uc002dmo.2_Silent_p.S1516S|TNRC6A_uc002dmr.2_Silent_p.S76S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1877	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CTCTCGGGTCCAGCCAGAGCC	0.567			NA											53	131					0	0	0.048971	0	0
IL4R	3566	broad.mit.edu	37	16	27353517	27353517	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr16:27353517A>G	uc002don.2	+	4	388	c.146A>G	c.(145-147)AAT>AGT	p.N49S	IL4R_uc002dom.2_Missense_Mutation_p.N49S|IL4R_uc002dop.3_Missense_Mutation_p.N34S|IL4R_uc010bxy.2_Missense_Mutation_p.N49S|IL4R_uc002doo.2_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	49	Extracellular (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						TGGAAGATGAATGGTCCCACC	0.572			NA											14	148					0	0	0.038395	0	0
TMEM102	284114	broad.mit.edu	37	17	7340297	7340297	+	Silent	SNP	C	C	T	rs111344839		TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:7340297C>T	uc002ggx.1	+	3	1272	c.999C>T	c.(997-999)AGC>AGT	p.S333S	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.S333S|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	333	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				GGGCTCGGAGCCACTCGTGGG	0.726			NA											12	20					0	0	0.020292	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:26817852G>A	uc002hbh.2	+	4	569	c.502G>A	c.(502-504)GTC>ATC	p.V168I	SLC13A2_uc010wal.1_Missense_Mutation_p.V125I|SLC13A2_uc010wam.1_Missense_Mutation_p.V124I|SLC13A2_uc010wan.1_Missense_Mutation_p.V217I|SLC13A2_uc010wao.1_Missense_Mutation_p.V125I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V97I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	168						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCAGCAACGTCGAGGAGGG	0.597			NA											19	41					0	0	0.043863	0	0
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:27620945G>T	uc002hdy.3	-	1	222	c.133C>A	c.(133-135)CAC>AAC	p.H45N	NUFIP2_uc002hdx.3_Missense_Mutation_p.H45N	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	45	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.244			NA											4	131					1.024e-07	1.19846e-07	0.014758	1	0
KRT10	3858	broad.mit.edu	37	17	38976885	38976885	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:38976885C>T	uc002hvi.2	-	3	771	c.745G>A	c.(745-747)GAG>AAG	p.E249K	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	249	Coil 1B.|Rod.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				ATGTCAGCCTCCACGCTCTGG	0.507			NA											35	83					0	0	0.017118	0	0
PTRF	284119	broad.mit.edu	37	17	40557198	40557198	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:40557198C>A	uc002hzo.2	-	2	839	c.680G>T	c.(679-681)CGG>CTG	p.R227L	PTRF_uc010wgi.1_Missense_Mutation_p.R209L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	227	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GTCCACGCGCCGCAGGCCGCT	0.622			NA											26	83					1.75199e-13	2.23237e-13	0.034045	1	0
SGSH	6448	broad.mit.edu	37	17	78185956	78185956	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:78185956G>A	uc002jxz.3	-	7	950	c.863C>T	c.(862-864)CCG>CTG	p.P288L	SGSH_uc002jya.3_Missense_Mutation_p.P85L|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	288			P -> S (in MPS3A).		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGTGCCCGGCCAGTACAG	0.617			NA											22	43					0	0	0.024334	0	0
AATK	9625	broad.mit.edu	37	17	79094976	79094976	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:79094976G>T	uc010dia.2	-	11	2840	c.2760C>A	c.(2758-2760)TTC>TTA	p.F920L	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	920						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGACGGGCTGAAGACCTCAT	0.637			NA											5	9					0.000602214	0.000642905	0.014758	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879494	3879494	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr18:3879494T>C	uc002kmf.2	-	1	642	c.575A>G	c.(574-576)AAG>AGG	p.K192R	DLGAP1_uc010wyz.1_Missense_Mutation_p.K192R|DLGAP1_uc002kmk.2_Missense_Mutation_p.K192R|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	192					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GGGCCGGGCCTTGGGCTCCGC	0.697			NA											3	141					0	0	0.004672	0	0
SETBP1	26040	broad.mit.edu	37	18	42532001	42532001	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr18:42532001T>C	uc010dni.2	+	4	2992	c.2696T>C	c.(2695-2697)CTG>CCG	p.L899P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	899						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTCTGCTCCCTGGACAACCCG	0.557			NA							Schinzel-Giedion_syndrome				14	22					0	0	0.016723	0	0
KEAP1	9817	broad.mit.edu	37	19	10602925	10602925	+	Missense_Mutation	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:10602925T>A	uc002moq.1	-	3	809	c.653A>T	c.(652-654)GAG>GTG	p.E218V	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E218V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E218Q(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAAGAACTCCTCTTGCTTGGC	0.562			NA											28	28					0	0	0.041601	0	0
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:12429722T>C	uc002mtp.2	-	4	1355	c.1117A>G	c.(1117-1119)ACG>GCG	p.T373A		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGATAACGTTTTCCCACAC	0.413	GBM(39;623 795 5132 29510 31476)		NA											3	160					0	0	0.014758	0	0
HOOK2	29911	broad.mit.edu	37	19	12874498	12874498	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:12874498C>A	uc002muy.2	-	21	2093	c.1922G>T	c.(1921-1923)CGC>CTC	p.R641L	HOOK2_uc010xmq.1_Missense_Mutation_p.R46L|HOOK2_uc002muz.2_Missense_Mutation_p.R639L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	641	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						GTGTCGGATGCGGACATCCCG	0.587			NA											28	47					6.00712e-18	8.18212e-18	0.050027	1	0
ZFP30	22835	broad.mit.edu	37	19	38126058	38126058	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:38126058C>G	uc002ogv.1	-	6	1900	c.1384G>C	c.(1384-1386)GGT>CGT	p.G462R	ZFP30_uc002ogw.1_Missense_Mutation_p.G462R|ZFP30_uc002ogx.1_Missense_Mutation_p.G462R|ZFP30_uc010xtt.1_Missense_Mutation_p.G461R	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCTTTTCACCAGTATGAATA	0.373			NA											28	34					0	0	0.034045	0	0
C19orf75	284369	broad.mit.edu	37	19	51768793	51768793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:51768793G>A	uc002pwb.1	+	3	575	c.194G>A	c.(193-195)TGG>TAG	p.W65*	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	65						integral to membrane				ovary(1)|pancreas(1)	2						CTTGGCCCCTGGGCTAACAGC	0.557			NA											22	25					0	0	0.016522	0	0
USP29	57663	broad.mit.edu	37	19	57641606	57641606	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:57641606G>T	uc002qny.2	+	4	1919	c.1563G>T	c.(1561-1563)TTG>TTT	p.L521F		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	521					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGCTTGGTTGCTGGTGAAGA	0.403			NA											61	75					2.54232e-27	3.78949e-27	0.048971	1	0
TPO	7173	broad.mit.edu	37	2	1481007	1481007	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr2:1481007C>G	uc002qww.2	+	8	1060	c.969C>G	c.(967-969)TTC>TTG	p.F323L	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.F323L|TPO_uc002qwr.2_Missense_Mutation_p.F323L|TPO_uc002qwx.2_Missense_Mutation_p.F323L|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.F323L	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	323	Extracellular (Potential).	Calcium; via carbonyl oxygen (By similarity).			cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGACCTCGTTCCTGGACGCGT	0.697			NA											7	13					0	0	0.047766	0	0
LCT	3938	broad.mit.edu	37	2	136562358	136562358	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr2:136562358C>A	uc002tuu.1	-	10	4454	c.4443G>T	c.(4441-4443)CTG>CTT	p.L1481L		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1481	Extracellular (Potential).|4.|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)		TGCTGGCGGCCAGCAGTGTAT	0.562			NA											18	70					1.32003e-05	1.48975e-05	0.027356	1	0
RPRM	56475	broad.mit.edu	37	2	154335041	154335041	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr2:154335041G>T	uc002tyq.1	-	1	282	c.39C>A	c.(37-39)GGC>GGA	p.G13G		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	13					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						CCAGGAACAGGCCCGCCACGT	0.751			NA											7	10					1.12685e-05	1.28088e-05	0.047766	1	0
CYP20A1	57404	broad.mit.edu	37	2	204161566	204161566	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr2:204161566A>G	uc002uzv.3	+	13	1946	c.1324A>G	c.(1324-1326)ACA>GCA	p.T442A	CYP20A1_uc002uzx.3_Missense_Mutation_p.T340A|CYP20A1_uc010zif.1_Missense_Mutation_p.T450A|CYP20A1_uc002uzy.3_Missense_Mutation_p.T340A|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.T172A	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	442						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						GGTTATTGAAACAAAGTATGA	0.348			NA											28	43					0	0	0.041601	0	0
ADAM33	80332	broad.mit.edu	37	20	3655458	3655458	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr20:3655458G>T	uc002wit.2	-	5	459	c.372C>A	c.(370-372)CCC>CCA	p.P124P	ADAM33_uc002wir.1_Silent_p.P124P|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Silent_p.P124P|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.P136P|ADAM33_uc010zqh.1_Silent_p.P124P	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	124	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						CCCAGGAGTCGGGGAAGCCCC	0.632			NA											4	42					0.000602214	0.000642905	0.014758	1	0
PLCB1	23236	broad.mit.edu	37	20	8709754	8709754	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr20:8709754C>A	uc002wnb.2	+	18	1824	c.1821C>A	c.(1819-1821)TCC>TCA	p.S607S	PLCB1_uc010zrb.1_Silent_p.S506S|PLCB1_uc002wna.2_Silent_p.S607S|PLCB1_uc002wnc.1_Silent_p.S506S|PLCB1_uc002wnd.1_Silent_p.S184S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	607	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGGATTCATCCAACTATATGC	0.378			NA											43	58					1.81118e-26	2.67446e-26	0.048971	1	0
FITM2	128486	broad.mit.edu	37	20	42935469	42935469	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr20:42935469C>A	uc002xlr.1	-	2	686	c.585G>T	c.(583-585)CTG>CTT	p.L195L		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	195	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						TCAGAATGCCCAGGGCCACAA	0.522			NA											12	47					0.00010058	0.000110359	0.013537	1	0
SEMG2	6407	broad.mit.edu	37	20	43850359	43850359	+	Missense_Mutation	SNP	A	A	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr20:43850359A>C	uc010ggz.2	+	2	143	c.86A>C	c.(85-87)AAA>ACA	p.K29T	SEMG2_uc002xnk.2_Missense_Mutation_p.K29T|SEMG2_uc002xnl.2_Missense_Mutation_p.K29T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	29					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGTGGATCAAAAGGCCAATTG	0.403			NA											27	70					0	0	0.030593	0	0
SYCP2	10388	broad.mit.edu	37	20	58489197	58489197	+	Silent	SNP	T	T	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr20:58489197T>A	uc002yaz.2	-	10	883	c.744A>T	c.(742-744)GCA>GCT	p.A248A	SYCP2_uc010gju.1_Silent_p.A149A	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	248					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCTTTTAAATGCCTTAGCAA	0.284			NA											12	46					0	0	0.016723	0	0
POTEH	23784	broad.mit.edu	37	22	16267070	16267071	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr22:16267070_16267071CC>AA	uc010gqp.2	-	9	1430_1431	c.1378_1379GG>TT	c.(1378-1380)GGA>TTA	p.G460L	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.G179L|POTEH_uc002zlj.1_Missense_Mutation_p.G295L	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	460										skin(1)	1						ATGAGTACTTCCGTGCTTCTTC	0.361			NA											24	345					0	0	0.004672	0	0
SSTR3	6753	broad.mit.edu	37	22	37603252	37603252	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr22:37603252C>A	uc003ara.2	-	2	653	c.591G>T	c.(589-591)GAG>GAT	p.E197D	SSTR3_uc003arb.2_Missense_Mutation_p.E197D	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	197	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CCGCCGCCGGCTCGGGCCACT	0.697			NA											3	14					6.4e-05	7.12113e-05	0.004672	1	0
SOX10	6663	broad.mit.edu	37	22	38374042	38374042	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr22:38374042G>T	uc003aun.1	-	3	807	c.529C>A	c.(529-531)CGG>AGG	p.R177R	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.R177R	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	177						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					TTCTTCCGCCGCCTGGGCTGG	0.667	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)		NA											3	11					0.00909568	0.00933193	0.009096	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066162	40066162	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr22:40066162G>A	uc003ayc.2	+	25	4314	c.4314G>A	c.(4312-4314)CGG>CGA	p.R1438R	CACNA1I_uc003ayd.2_Silent_p.R1403R|CACNA1I_uc003aye.2_Silent_p.R1353R|CACNA1I_uc003ayf.2_Silent_p.R1318R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1438	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACAAGTGCCGGCAGCACCAGG	0.612			NA											4	122					0	0	0.014758	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45198039	45198039	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr22:45198039G>T	uc003bfd.2	+	9	1196	c.924G>T	c.(922-924)CTG>CTT	p.L308L	PRR5-ARHGAP8_uc003bfc.2_Silent_p.L185L|PRR5-ARHGAP8_uc011aqi.1_Silent_p.L176L|PRR5-ARHGAP8_uc011aqj.1_Silent_p.L90L|ARHGAP8_uc003bfi.2_Silent_p.L54L|ARHGAP8_uc010gzv.2_Silent_p.L54L|ARHGAP8_uc003bfj.2_Silent_p.L54L|ARHGAP8_uc003bfk.2_Silent_p.L54L|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Silent_p.L90L	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						ACCAGCGGCTGCTGGAGTAAG	0.592			NA											38	70					1.61572e-30	2.45466e-30	0.039052	1	0
ATP2B2	491	broad.mit.edu	37	3	10413716	10413716	+	Missense_Mutation	SNP	T	T	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:10413716T>G	uc003bvt.2	-	12	1875	c.1436A>C	c.(1435-1437)AAC>ACC	p.N479T	ATP2B2_uc003bvv.2_Missense_Mutation_p.N434T|ATP2B2_uc003bvw.2_Missense_Mutation_p.N434T|ATP2B2_uc010hdo.2_Missense_Mutation_p.N184T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	479	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCGTACCAGGTTGTTGTCCTT	0.577	Ovarian(125;1619 1709 15675 19819 38835)		NA											17	78					0	0	0.043863	0	0
SCN11A	11280	broad.mit.edu	37	3	38913746	38913746	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:38913746A>G	uc011ays.1	-	20	3632	c.3433T>C	c.(3433-3435)TCC>CCC	p.S1145P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1145	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCCGGAAGGACTTCAATTCC	0.478			NA											5	124					0	0	0.02938	0	0
C3orf39	84892	broad.mit.edu	37	3	43122492	43122492	+	Silent	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:43122492G>C	uc003cmq.1	-	2	573	c.432C>G	c.(430-432)CCC>CCG	p.P144P	C3orf39_uc003cmr.1_Silent_p.P144P	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	144						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		ACACCGGCTTGGGCATGAAGC	0.597			NA											14	99					0	0	0.024245	0	0
CCDC51	79714	broad.mit.edu	37	3	48475178	48475178	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:48475178C>G	uc003csz.2	-	3	537	c.416G>C	c.(415-417)CGT>CCT	p.R139P	CCDC51_uc003cta.2_Missense_Mutation_p.R30P|CCDC51_uc003ctb.2_Missense_Mutation_p.R30P|CCDC51_uc003ctc.2_Missense_Mutation_p.R139P|CCDC51_uc003ctd.2_Missense_Mutation_p.R30P	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	139	Potential.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597			NA											40	106					0	0	0.030466	0	0
ROBO2	6092	broad.mit.edu	37	3	77666736	77666736	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:77666736G>T	uc003dpy.3	+	22	4009	c.3366G>T	c.(3364-3366)CTG>CTT	p.L1122L	ROBO2_uc003dpz.2_Silent_p.L1126L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L1126L|ROBO2_uc003dqa.2_Silent_p.L249L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1122	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGATGAACTGGAAGAAGATG	0.458			NA											17	80					1.45105e-14	1.89476e-14	0.038395	1	0
COL6A6	131873	broad.mit.edu	37	3	130329537	130329537	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:130329537G>A	uc010htl.2	+	22	4828	c.4797G>A	c.(4795-4797)GTG>GTA	p.V1599V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1599	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAGGAGGTGTGGGAAGTAAAG	0.388			NA											3	5					0	0	0.004672	0	0
CP	1356	broad.mit.edu	37	3	148924112	148924112	+	Missense_Mutation	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:148924112A>G	uc003ewy.3	-	6	1304	c.1051T>C	c.(1051-1053)TTT>CTT	p.F351L	CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.F132L|CP_uc003ewz.2_Missense_Mutation_p.F351L|CP_uc010hvf.1_Missense_Mutation_p.F77L	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	351	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGGAAAAAGGCTTGCAAA	0.433			NA											3	110					0	0	0.009096	0	0
MCF2L2	23101	broad.mit.edu	37	3	182994678	182994678	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr3:182994678C>T	uc003fli.1	-	15	1934	c.1844G>A	c.(1843-1845)GGA>GAA	p.G615E	MCF2L2_uc003flj.1_Missense_Mutation_p.G615E|MCF2L2_uc011bqr.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	615					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGAAAGGTCTCCGAGCCTGGC	0.547			NA											3	18					0	0	0.004672	0	0
TACC3	10460	broad.mit.edu	37	4	1746481	1746481	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:1746481G>A	uc003gdo.2	+	15	2481	c.2373G>A	c.(2371-2373)GCG>GCA	p.A791A	TACC3_uc003gdp.2_Silent_p.A431A|TACC3_uc010ica.2_Silent_p.A212A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	791	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCCCAGGCGGAAGCGTTGG	0.672	Ovarian(120;482 2294 11894 35824)		NA											3	26					0	0	0.009096	0	0
DRD5	1816	broad.mit.edu	37	4	9785025	9785025	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:9785025G>T	uc003gmb.3	+	1	1768	c.1372G>T	c.(1372-1374)GAC>TAC	p.D458Y		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	458	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGGGAGCTGGACTGCGAGGG	0.507			NA											21	65					2.48779e-11	3.07087e-11	0.027356	1	0
GABRA4	2557	broad.mit.edu	37	4	46967068	46967069	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:46967068_46967069GG>CC	uc003gxg.2	-	8	1191_1192	c.1052_1053CC>GG	c.(1051-1053)GCC>GGG	p.A351G		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	351	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTCCTTTTGGCTTTTTCCAT	0.47	Ovarian(6;283 369 8234 12290 33402)		NA											14	46					0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138451510	138451510	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:138451510C>A	uc003ihe.3	-	1	2120	c.1733G>T	c.(1732-1734)GGG>GTG	p.G578V	PCDH18_uc003ihf.3_Missense_Mutation_p.G571V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G358V|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	578	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CAATGCAGGCCCTATAACCAC	0.463			NA											64	155					5.96624e-29	8.97778e-29	0.048971	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947279	33947279	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:33947279C>T	uc003jid.2	-	6	1449	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K	SLC45A2_uc003jie.2_Missense_Mutation_p.E453K	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	453	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCCTTTTCTTCCTCGCGGTGG	0.512	Ovarian(31;380 859 8490 22203 49048)		NA											99	194					0	0	0.048971	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256740	140256740	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:140256740C>T	uc003lic.2	+	1	1810	c.1683C>T	c.(1681-1683)AAC>AAT	p.N561N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.N561N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	561	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCAC	0.697	Pancreas(113;759 1672 13322 24104 50104)		NA											52	127					0	0	0.048971	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475913	140475913	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:140475913C>A	uc003lil.2	+	1	1677	c.1539C>A	c.(1537-1539)GGC>GGA	p.G513G	PCDHB2_uc003lim.1_Silent_p.G174G	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	513	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGACAACGGCCACCTGTTCG	0.706			NA											18	158					1.40151e-16	1.86083e-16	0.055883	1	0
PCDHB14	56122	broad.mit.edu	37	5	140605063	140605063	+	Silent	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:140605063G>C	uc003ljb.2	+	1	1986	c.1986G>C	c.(1984-1986)CTG>CTC	p.L662L	PCDHB14_uc011dal.1_Silent_p.L509L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	662	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.706	Ovarian(141;50 1831 27899 33809 37648)		NA											35	77					0	0	0.021022	0	0
NR3C1	2908	broad.mit.edu	37	5	142779500	142779500	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:142779500C>A	uc003lmz.2	-	2	1397	c.905G>T	c.(904-906)TGT>TTT	p.C302F	NR3C1_uc003lmy.2_Missense_Mutation_p.C302F|NR3C1_uc003lna.2_Missense_Mutation_p.C302F|NR3C1_uc003lnb.2_Missense_Mutation_p.C302F|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.C302F|NR3C1_uc003lnd.2_Missense_Mutation_p.C302F|NR3C1_uc003lne.2_Missense_Mutation_p.C302F|NR3C1_uc003lnf.2_Missense_Mutation_p.C302F|NR3C1_uc003lng.2_Missense_Mutation_p.C302F|NR3C1_uc003lnh.2_Missense_Mutation_p.C302F|NR3C1_uc003lni.2_Missense_Mutation_p.C302F	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	302	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GCTTGCCTGACAGTAAACTGT	0.423			NA											35	85					7.05121e-23	1.01281e-22	0.039052	1	0
HK3	3101	broad.mit.edu	37	5	176317672	176317672	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr5:176317672C>A	uc003mfa.2	-	6	686	c.594G>T	c.(592-594)GTG>GTT	p.V198V	HK3_uc003mez.2_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	198	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGGACCACATCCTGGC	0.597			NA											112	301					9.89263e-63	1.59493e-62	0.048971	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44218146	44218146	+	Missense_Mutation	SNP	A	A	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr6:44218146A>T	uc003oxa.1	+	6	851	c.767A>T	c.(766-768)GAT>GTT	p.D256V	HSP90AB1_uc011dvr.1_Missense_Mutation_p.D246V|HSP90AB1_uc003oxb.1_Missense_Mutation_p.D256V|HSP90AB1_uc011dvs.1_Missense_Mutation_p.D76V|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	256					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			gtgggttcagatgaggaggat	0.08			NA											12	11					0	0	0.010729	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251781	47251781	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr6:47251781T>C	uc003oyv.2	-	3	1569	c.1136A>G	c.(1135-1137)AAG>AGG	p.K379R		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	379	Cytoplasmic (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			CCGGGGCCCCTTTTTCAGAGT	0.512			NA											3	159					0	0	0.014758	0	0
TINAG	27283	broad.mit.edu	37	6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr6:54191662G>A	uc003pcj.2	+	4	718	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373			NA											40	114					0	0	0.048971	0	0
DST	667	broad.mit.edu	37	6	56347530	56347530	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr6:56347530C>T	uc003pdf.2	-	83	15024	c.14996G>A	c.(14995-14997)TGT>TAT	p.C4999Y	DST_uc003pcz.3_Missense_Mutation_p.C4821Y|DST_uc011dxj.1_Missense_Mutation_p.C4850Y|DST_uc011dxk.1_Missense_Mutation_p.C4861Y|DST_uc003pcy.3_Missense_Mutation_p.C4495Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6907	Spectrin 19.				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)			AGAAAGTGCACACACGGTCTC	0.498			NA											14	116					0	0	0.024245	0	0
DST	667	broad.mit.edu	37	6	56510705	56510705	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr6:56510705G>A	uc003pdf.2	-	14	1666	c.1638C>T	c.(1636-1638)GCC>GCT	p.A546A	DST_uc003pcz.3_Silent_p.A368A|DST_uc011dxj.1_Silent_p.A397A|DST_uc011dxk.1_Silent_p.A408A|DST_uc011dxl.1_Silent_p.A397A|DST_uc003pde.2_Silent_p.A484A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	368					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)			TCTCTAGCATGGCAATAATGA	0.438			NA											50	76					0	0	0.048971	0	0
DFNA5	1687	broad.mit.edu	37	7	24784262	24784262	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:24784262C>T	uc010kus.1	-	3	411	c.323G>A	c.(322-324)CGC>CAC	p.R108H	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.R108H|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.R108H|DFNA5_uc003sxc.2_Missense_Mutation_p.R108H	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	108					sensory perception of sound			p.R108R(1)		ovary(1)	1						GCTCTCTACGCGGCTGCTGCC	0.552	GBM(78;184 1250 20134 20900 23600)		NA											14	53					0	0	0.0333	0	0
HOXA6	3203	broad.mit.edu	37	7	27185328	27185328	+	Silent	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:27185328G>A	uc003syo.1	-	2	651	c.651C>T	c.(649-651)ATC>ATT	p.I217I	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GCGTGGAATTGATGAGCTTGT	0.612			NA											47	99					0	0	0.048971	0	0
BBS9	27241	broad.mit.edu	37	7	33380516	33380516	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:33380516G>T	uc003tdn.1	+	11	1719	c.1206G>T	c.(1204-1206)TGG>TGT	p.W402C	BBS9_uc003tdo.1_Missense_Mutation_p.W402C|BBS9_uc003tdp.1_Missense_Mutation_p.W402C|BBS9_uc003tdq.1_Missense_Mutation_p.W402C|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.W280C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	402					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			CAGGTGTTTGGCCCATGACTG	0.308			NA							Bardet-Biedl_syndrome				12	62					4.93089e-13	6.13449e-13	0.020292	1	0
ABCA13	154664	broad.mit.edu	37	7	48634392	48634392	+	Silent	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:48634392G>C	uc003toq.2	+	58	14752	c.14727G>C	c.(14725-14727)GCG>GCC	p.A4909A	ABCA13_uc010kys.1_Silent_p.A1984A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.A639A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4909	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GCTGTGCTGCGGTGCTGACCT	0.463			NA											31	101					0	0	0.054565	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:57187809T>G	uc010kzo.2	-	5	1584	c.1313A>C	c.(1312-1314)AAA>ACA	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	438	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453			NA											4	73					0	0	0.021553	0	0
AP4M1	9179	broad.mit.edu	37	7	99700336	99700336	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr7:99700336C>T	uc003utb.3	+	3	394	c.186C>T	c.(184-186)AGC>AGT	p.S62S	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Silent_p.S62S|AP4M1_uc010lgl.1_Silent_p.S62S|AP4M1_uc003utc.3_Silent_p.S69S|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Silent_p.S62S|AP4M1_uc011kjh.1_Silent_p.S14S|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	62					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGACACAGCGGCCTCTATT	0.433	Pancreas(174;1182 2812 29595 49511)		NA											7	67					0	0	0.02938	0	0
EBF2	64641	broad.mit.edu	37	8	25745399	25745399	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:25745399C>T	uc003xes.1	-	9	858	c.841G>A	c.(841-843)GGT>AGT	p.G281S	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	281	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACTTGGAGACCATCAAAGAAG	0.493	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)		NA											3	68					0	0	0.014758	0	0
ZMAT4	79698	broad.mit.edu	37	8	40438694	40438694	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:40438694G>T	uc003xnr.2	-	6	810	c.664C>A	c.(664-666)CAC>AAC	p.H222N	ZMAT4_uc003xns.2_Missense_Mutation_p.H146N	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	222	Matrin-type 4.					nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGGTCTGGTGTTTAGATCCT	0.388			NA											27	42					8.88839e-20	1.22119e-19	0.045705	1	0
MYST3	7994	broad.mit.edu	37	8	41792289	41792289	+	Missense_Mutation	SNP	T	T	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:41792289T>C	uc010lxb.2	-	18	3993	c.3449A>G	c.(3448-3450)AAG>AGG	p.K1150R	MYST3_uc010lxc.2_Missense_Mutation_p.K1150R|MYST3_uc003xon.3_Missense_Mutation_p.K1150R	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1150	Poly-Lys.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GGGCCATCCCTTTTTCTTTTT	0.433			NA											3	131					0	0	0.009096	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988902	66988902	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:66988902G>T	uc003xvs.1	+	4	418	c.127G>T	c.(127-129)GCC>TCC	p.A43S	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	43	J.			KLAL -> LENP (in Ref. 3; CAB63773).	protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGAAAATTGGCCCTGAAACA	0.368			NA											30	115					2.52637e-11	3.09432e-11	0.023175	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764153	77764153	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:77764153G>T	uc003yav.2	+	10	5248	c.4861G>T	c.(4861-4863)GAT>TAT	p.D1621Y	ZFHX4_uc003yau.1_Missense_Mutation_p.D1666Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1621Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1621						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCCATTTAGATGCCAAAGA	0.448			NA								HNSCC(33;0.089)			30	50					1.71298e-08	2.05039e-08	0.017118	1	0
FBXO43	286151	broad.mit.edu	37	8	101152954	101152954	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:101152954G>C	uc003yjd.2	-	2	2241	c.1528C>G	c.(1528-1530)CTT>GTT	p.L510V	FBXO43_uc003yje.2_Missense_Mutation_p.L476V|FBXO43_uc010mbp.1_Missense_Mutation_p.L510V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	510	F-box.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCATAGCAAGAATATGCTTT	0.328			NA											25	99					0	0	0.021523	0	0
ZHX2	22882	broad.mit.edu	37	8	123964468	123964468	+	Missense_Mutation	SNP	G	G	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:123964468G>A	uc003ypk.1	+	3	1285	c.718G>A	c.(718-720)GGA>AGA	p.G240R		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	240	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACATTAGGACACGTCAT	0.562	Esophageal Squamous(94;1056 1388 11767 13799 49639)		NA											44	179					0	0	0.048971	0	0
C8orf76	84933	broad.mit.edu	37	8	124253515	124253515	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:124253515C>T	uc003yqc.1	-	1	103	c.72G>A	c.(70-72)CGG>CGA	p.R24R	C8orf76_uc003yqd.2_Intron	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	24							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGTCCTGACCGCCGCTCCG	0.592			NA											7	22					0	0	0.047766	0	0
KLHL38	340359	broad.mit.edu	37	8	124658139	124658139	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:124658139C>T	uc003yqs.1	-	3	1610	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	529	Kelch 6.										0						GGTCAGCCGCCGCCCGCCCGT	0.582			NA											27	115					0	0	0.037714	0	0
CCIN	881	broad.mit.edu	37	9	36170349	36170349	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr9:36170349C>T	uc003zzb.3	+	1	961	c.850C>T	c.(850-852)CTC>TTC	p.L284F		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	284	Kelch 1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CGTGGTCATCCTCGGTGGCCA	0.572			NA											31	56					0	0	0.023175	0	0
ROR2	4920	broad.mit.edu	37	9	94487237	94487237	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr9:94487237C>A	uc004arj.1	-	9	1738	c.1539G>T	c.(1537-1539)GCG>GCT	p.A513A	ROR2_uc004ari.1_Silent_p.A373A	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	513	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGGGCCCCTCCGCTTTGTCCT	0.642			NA											42	88					1.61863e-15	2.13119e-15	0.048971	1	0
ABL1	25	broad.mit.edu	37	9	133760830	133760830	+	Silent	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr9:133760830C>T	uc004bzw.2	+	11	3156	c.3153C>T	c.(3151-3153)GCC>GCT	p.A1051A	ABL1_uc004bzv.2_Silent_p.A1070A	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	1051	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCAGATGGCCAGCCACAGCG	0.607			NA	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								8	63					0	0	0.047766	0	0
NUP214	8021	broad.mit.edu	37	9	134107673	134107673	+	Missense_Mutation	SNP	T	T	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr9:134107673T>G	uc004cag.2	+	35	6328	c.6217T>G	c.(6217-6219)TTC>GTC	p.F2073V	NUP214_uc004cah.2_Missense_Mutation_p.F2063V|NUP214_uc004cai.2_Missense_Mutation_p.F1503V|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.F899V	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	2073	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTTTTCAGGGTTCAGCTTTGG	0.433	Pancreas(4;24 48 25510 30394 32571)		NA	T	DEK|SET|ABL1	AML|T-ALL								16	69					0	0	0.055883	0	0
SHOX	6473	broad.mit.edu	37	X	595519	595519	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:595519G>T	uc004cph.1	+	3	1135	c.444G>T	c.(442-444)GAG>GAT	p.E148D	SHOX_uc004cpi.2_Missense_Mutation_p.E148D	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	148	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCATGCGCGAGGAGCTCAGCC	0.572	Ovarian(95;18 1419 12424 14056 28266)		NA											2	3					0.004672	0.00485642	0.004672	1	0
WWC3	55841	broad.mit.edu	37	X	10085253	10085253	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:10085253C>T	uc004csx.3	+	11	1352	c.1154C>T	c.(1153-1155)TCC>TTC	p.S385F	WWC3_uc010nds.2_Missense_Mutation_p.S49F|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	385	Ser-rich.									ovary(4)	4						AGCCGGGGCTCCCTGAGCTCG	0.657			NA											31	89					0	0	0.054565	0	0
WWC3	55841	broad.mit.edu	37	X	10094316	10094316	+	Silent	SNP	A	A	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:10094316A>G	uc004csx.3	+	15	2274	c.2076A>G	c.(2074-2076)TCA>TCG	p.S692S	WWC3_uc010nds.2_Silent_p.S356S|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	692	C2.									ovary(4)	4						ACGTGTGTTCAGTGACTCCGC	0.547			NA											26	89					0	0	0.017118	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337381	13337381	+	Missense_Mutation	SNP	C	C	G			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:13337381C>G	uc010ned.2	-	1	1138	c.673G>C	c.(673-675)GAT>CAT	p.D225H		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	225	UIM 1.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TCCTCCTCATCTTGGTCTGAT	0.383			NA											102	205					0	0	0.048971	0	0
PHEX	5251	broad.mit.edu	37	X	22132589	22132589	+	Missense_Mutation	SNP	C	C	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:22132589C>T	uc004dah.2	+	11	1390	c.1187C>T	c.(1186-1188)ACC>ATC	p.T396I	PHEX_uc011mjr.1_Missense_Mutation_p.T396I|PHEX_uc011mjs.1_Missense_Mutation_p.T299I	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	396	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ATCCAGGGGACCACAACTTTG	0.393			NA											40	124					0	0	0.045515	0	0
POLA1	5422	broad.mit.edu	37	X	24753519	24753519	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:24753519G>T	uc004dbl.2	+	18	1842	c.1819G>T	c.(1819-1821)GTG>TTG	p.V607L		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	607					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CTAACAGAATGTGAAGGTTGA	0.388			NA											30	68					3.21399e-22	4.4939e-22	0.021022	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999395	27999395	+	Silent	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:27999395C>A	uc004dbx.1	-	1	172	c.57G>T	c.(55-57)CTG>CTT	p.L19L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	19										ovary(3)|skin(1)	4						GGCTGCTGAACAGGCTTTCAG	0.562			NA											11	46					3.27435e-08	3.88983e-08	0.020292	1	0
RBM10	8241	broad.mit.edu	37	X	47039816	47039816	+	Splice_Site	SNP	A	A	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:47039816A>T	uc004dhf.2	+	12	1540	c.1161_splice	c.e12-2	p.R387_splice	RBM10_uc004dhg.2_Splice_Site_p.R309_splice|RBM10_uc004dhh.2_Splice_Site_p.R386_splice|RBM10_uc010nhq.2_Splice_Site_p.R310_splice|RBM10_uc004dhi.2_Splice_Site_p.R452_splice	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CATCCTCCTCAGGGACATGGC	0.488	Melanoma(171;120 2705 19495 39241)		NA											7	37					0	0	0.047766	0	0
ZNF81	347344	broad.mit.edu	37	X	47774812	47774812	+	Missense_Mutation	SNP	G	G	C			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:47774812G>C	uc010nhy.1	+	6	1135	c.767G>C	c.(766-768)AGC>ACC	p.S256T		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AAAGTCCTCAGCCTCAAACAC	0.403			NA											19	43					0	0	0.021523	0	0
HUWE1	10075	broad.mit.edu	37	X	53578038	53578038	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:53578038C>A	uc004dsp.2	-	65	9611	c.9209G>T	c.(9208-9210)CGC>CTC	p.R3070L	HUWE1_uc004dsn.2_Missense_Mutation_p.R1878L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3070					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GACACTACGGCGCAGGTCTGA	0.572			NA											28	90					1.56442e-22	2.20695e-22	0.050027	1	0
HUWE1	10075	broad.mit.edu	37	X	53578301	53578301	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:53578301C>A	uc004dsp.2	-	64	9424	c.9022G>T	c.(9022-9024)GTG>TTG	p.V3008L	HUWE1_uc004dsn.2_Missense_Mutation_p.V1832L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3008					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TTCCCCACCACTGCAGGCGCT	0.597			NA											9	24					2.17888e-05	2.44158e-05	0.006214	1	0
HUWE1	10075	broad.mit.edu	37	X	53611279	53611279	+	Silent	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:53611279G>T	uc004dsp.2	-	41	5430	c.5028C>A	c.(5026-5028)CGC>CGA	p.R1676R	HUWE1_uc004dsn.2_Silent_p.R501R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1676	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GCATCACAGGGCGTCGGTTCC	0.433			NA											12	29					7.03913e-09	8.55525e-09	0.013537	1	0
DRP2	1821	broad.mit.edu	37	X	100509869	100509869	+	Missense_Mutation	SNP	G	G	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:100509869G>T	uc004egz.2	+	19	2505	c.2136G>T	c.(2134-2136)TGG>TGT	p.W712C	DRP2_uc011mrh.1_Missense_Mutation_p.W634C	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	712					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCCCGATGTGGCCACACGCCG	0.572			NA											17	173					2.37509e-13	3.00212e-13	0.055883	1	0
CLDN2	9075	broad.mit.edu	37	X	106171474	106171474	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:106171474C>A	uc004emq.1	+	2	535	c.16C>A	c.(16-18)CTC>ATC	p.L6I	MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.L6I	NM_020384	NP_065117	P57739	CLD2_HUMAN	claudin 2	6	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1						CTCTCTTGGCCTCCAACTTGT	0.552			NA											29	50					1.22384e-17	1.63869e-17	0.054565	1	0
AMMECR1	9949	broad.mit.edu	37	X	109561127	109561127	+	Missense_Mutation	SNP	C	C	A			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chrX:109561127C>A	uc004eoo.2	-	1	254	c.173G>T	c.(172-174)GGT>GTT	p.G58V	AMMECR1_uc004eop.2_Missense_Mutation_p.G58V|AMMECR1_uc004eoq.2_Intron	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	58	Gly/Ser-rich.										0						TCCGGTTAGACCTCCCAGCCC	0.736			NA											6	14					0.00621372	0.00641678	0.006214	1	0
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr1:226026384delC	uc001hpk.2	+	4	474	c.394delC	c.(394-396)CCCfs	p.P132fs	EPHX1_uc001hpl.2_Frame_Shift_Del_p.P132fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	132					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627			NA											7	459	---	---	---	---	NA	NA	NA	NA	NA
UTP20	27340	broad.mit.edu	37	12	101679641	101679641	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr12:101679641delC	uc001tia.1	+	4	464	c.308delC	c.(307-309)GCCfs	p.A103fs	UTP20_uc009ztz.1_Frame_Shift_Del_p.A103fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	103					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AACAGTTTTGCCTATCAACCC	0.368			NA											50	95	---	---	---	---	NA	NA	NA	NA	NA
DNAJA4	55466	broad.mit.edu	37	15	78565514	78565514	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr15:78565514delA	uc002bdj.1	+	3	508	c.391delA	c.(391-393)AAAfs	p.K131fs	DNAJA4_uc002bdi.2_Frame_Shift_Del_p.K160fs|DNAJA4_uc002bdk.2_Frame_Shift_Del_p.K104fs|DNAJA4_uc002bdl.2_Frame_Shift_Del_p.K46fs|DNAJA4_uc002bdm.1_5'Flank	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	131	CR-type.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			skin(1)	1						GGCCCTCCAGAAAAATGTAAT	0.338			NA											34	91	---	---	---	---	NA	NA	NA	NA	NA
STAT3	6774	broad.mit.edu	37	17	40481573	40481573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr17:40481573delA	uc002hzl.1	-	13	1472	c.1232delT	c.(1231-1233)TTGfs	p.L411fs	STAT3_uc002hzk.1_Frame_Shift_Del_p.L411fs|STAT3_uc002hzm.1_Frame_Shift_Del_p.L411fs|STAT3_uc010wgh.1_Frame_Shift_Del_p.L313fs|STAT3_uc002hzn.1_Frame_Shift_Del_p.L411fs	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	411					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCCACATACCAAGTGTTTGAA	0.498			NA							Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				33	100	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1207065	1207065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr19:1207065delG	uc002lrl.1	+	1	1268	c.153delG	c.(151-153)ATGfs	p.M51fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	51	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACCTGATGGGGGACCTGC	0.607			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			33	63	---	---	---	---	NA	NA	NA	NA	NA
DNMT3L	29947	broad.mit.edu	37	21	45671573	45671575	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr21:45671573_45671575delCTC	uc002zeg.1	-	9	1184_1186	c.700_702delGAG	c.(700-702)GAGdel	p.E234del	DNMT3L_uc002zeh.1_In_Frame_Del_p.E234del	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	234					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGGGTCCCCACTCCTCCACCTGC	0.65			NA											17	39	---	---	---	---	NA	NA	NA	NA	NA
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:7044507_7044509delCTC	uc003gjv.2	-	1	220_222	c.157_159delGAG	c.(157-159)GAGdel	p.E53del	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.										0						AAGCCGCTTGCTCCTCCTCCTCC	0.729			NA											3	6	---	---	---	---	NA	NA	NA	NA	NA
CNGA1	1259	broad.mit.edu	37	4	47939653	47939654	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr4:47939653_47939654insT	uc003gxt.3	-	11	1123_1124	c.857_858insA	c.(856-858)CAGfs	p.Q286fs	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Frame_Shift_Ins_p.Q355fs	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	286	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTTCTGTTCTCTGGAAGAACTC	0.371			NA											15	64	---	---	---	---	NA	NA	NA	NA	NA
POLR3D	661	broad.mit.edu	37	8	22103087	22103087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr8:22103087delC	uc003xbl.2	+	2	208	c.125delC	c.(124-126)TCCfs	p.S42fs	uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Frame_Shift_Del_p.S42fs|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	42					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGCCTTCCCTCCATCCGTTCC	0.672			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-7498-01A-12D-2184-08	TCGA-73-7498-10A-01D-2184-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a94e7ba6-d27f-4d30-b797-3ecae4a261a2	afd5aa48-8b00-46ce-a6df-16ad4546f282	g.chr9:137693829delC	uc004cfe.2	+	38	3364	c.2982delC	c.(2980-2982)GGCfs	p.G994fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657			NA											7	164	---	---	---	---	NA	NA	NA	NA	NA