Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PRAMEF4	400735	broad.mit.edu	37	1	12939818	12939818	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:12939818C>T	uc001aun.2	-	4	1055	c.984G>A	c.(982-984)CTG>CTA	p.L328L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	328	LRR 4.									ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGGTCCAGGGTCTTTA	0.448		NA											58	80					0	0	0	0
FBXO42	54455	broad.mit.edu	37	1	16580134	16580134	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:16580134G>T	uc001ayg.2	-	7	1076	c.860C>A	c.(859-861)TCT>TAT	p.S287Y	FBXO42_uc001aye.3_5'UTR|FBXO42_uc001ayf.2_Missense_Mutation_p.S194Y	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	287	Kelch 3.									upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGCACCTGAGATTGGCCACC	0.517		NA											12	17					5.51e-06	6.38e-06	1	0
KIF17	57576	broad.mit.edu	37	1	20992741	20992741	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:20992741G>A	uc001bdr.3	-	14	2995	c.2877C>T	c.(2875-2877)AGC>AGT	p.S959S	KIF17_uc001bdp.3_Silent_p.S236S|KIF17_uc001bdq.3_Silent_p.S237S|KIF17_uc009vpx.2_Silent_p.S329S|KIF17_uc001bds.3_Silent_p.S958S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	959					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAGGATCTGGCTGGCCCGCT	0.572		NA											31	43					0	0	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948750	37948750	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:37948750G>A	uc001cbb.3	+	6	1488	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q	ZC3H12A_uc001cbc.1_Silent_p.Q241Q	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	446					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGAGCCAGATGTCGGAAC	0.647		NA											3	44					0	0	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170082	57170082	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57170082G>C	uc001cyk.3	+	7	1298	c.1227G>C	c.(1225-1227)CAG>CAC	p.Q409H		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	409					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TCCGAAGTCAGAGCAAACCGT	0.408		NA											41	34					0	0	0	0
C8B	732	broad.mit.edu	37	1	57399015	57399015	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57399015G>A	uc001cyp.2	-	10	1612	c.1545C>T	c.(1543-1545)GTC>GTT	p.V515V	C8B_uc010oon.1_Silent_p.V453V|C8B_uc010ooo.1_Silent_p.V463V	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	515	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TACCTTTCAGGACAGGGACTC	0.552		NA											17	30					0	0	0	0
LHX8	431707	broad.mit.edu	37	1	75622595	75622595	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75622595T>C	uc001dgo.2	+	9	1492	c.828T>C	c.(826-828)TGT>TGC	p.C276C	LHX8_uc001dgq.2_Silent_p.C215C	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	276	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTCAGAATTGTAGAGCACGCC	0.473		NA											42	43					0	0	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716976	75716976	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75716976G>A	uc001dgu.2	-	7	408	c.264C>T	c.(262-264)AAC>AAT	p.N88N	SLC44A5_uc001dgt.2_Silent_p.N88N|SLC44A5_uc001dgs.2_Silent_p.N46N|SLC44A5_uc001dgr.2_Silent_p.N46N|SLC44A5_uc010oqz.1_Silent_p.N127N|SLC44A5_uc010ora.1_Silent_p.N82N|SLC44A5_uc010orb.1_5'UTR	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	88	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						AAATGGTCTTGTTCCTGTTAA	0.378		NA											13	26					0	0	0	0
S1PR1	1901	broad.mit.edu	37	1	101705535	101705535	+	Missense_Mutation	SNP	C	C	A	rs7549921	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:101705535C>A	uc001dud.2	+	2	1509	c.995C>A	c.(994-996)CCG>CAG	p.P332Q	S1PR1_uc009weg.2_Missense_Mutation_p.P332Q	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	332	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TGCAAGTGCCCGAGCGGAGAC	0.557		NA											68	92					1.44e-31	2.09e-31	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NA											4	161					0	0	0	0
LCE1A	353131	broad.mit.edu	37	1	152800095	152800095	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:152800095A>G	uc010pdw.1	+	1	147	c.147A>G	c.(145-147)GGA>GGG	p.G49G		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	49	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCCGGAGGCTGCTGTG	0.453		NA											20	39					0	0	0	0
ATP8B2	57198	broad.mit.edu	37	1	154318808	154318808	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:154318808G>C	uc001fex.2	+	25	2979	c.2979G>C	c.(2977-2979)CAG>CAC	p.Q993H		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	979	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCGCCCAGGGCATCTACA	0.562		NA											22	52					0	0	0	0
SPTA1	6708	broad.mit.edu	37	1	158624459	158624459	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158624459G>T	uc001fst.1	-	21	3177	c.2978C>A	c.(2977-2979)CCC>CAC	p.P993H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	993	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GACTTCTCGGGGGCTGCGGGC	0.468		NA											11	25					9.31e-06	1.07e-05	1	0
OR6K3	391114	broad.mit.edu	37	1	158687951	158687951	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158687951C>G	uc010pip.1	-	1	3	c.3G>C	c.(1-3)ATG>ATC	p.M1I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TAGTCCAGCACATGAGAGGGT	0.373		NA											16	33					0	0	0	0
SELP	6403	broad.mit.edu	37	1	169572441	169572441	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169572441A>G	uc001ggi.3	-	10	1593	c.1528T>C	c.(1528-1530)TGC>CGC	p.C510R	SELP_uc001ggh.2_Missense_Mutation_p.C345R|SELP_uc009wvr.2_Missense_Mutation_p.C510R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	510	Extracellular (Potential).|Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AAAGGTGTGCAGGGAATGGCT	0.378		NA											17	62					0	0	0	0
SELP	6403	broad.mit.edu	37	1	169586578	169586578	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169586578G>C	uc001ggi.3	-	3	234	c.169C>G	c.(169-171)CGT>GGT	p.R57G	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.R57G	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	57	Extracellular (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGTATTTACGGGAAATATTC	0.408		NA											46	104					0	0	0	0
METTL13	51603	broad.mit.edu	37	1	171756906	171756906	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:171756906G>T	uc001ghz.2	+	4	1492	c.1145G>T	c.(1144-1146)GGG>GTG	p.G382V	METTL13_uc001gia.2_Missense_Mutation_p.G296V|METTL13_uc001gib.2_Missense_Mutation_p.G226V|METTL13_uc010pml.1_Missense_Mutation_p.G381V	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	382							methyltransferase activity|protein binding			kidney(1)	1						GGGGACATTGGGGTCCGGACC	0.502		NA											12	27					1.05e-09	1.34e-09	1	0
RC3H1	149041	broad.mit.edu	37	1	173907909	173907909	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:173907909C>A	uc001gju.3	-	19	3439	c.3352G>T	c.(3352-3354)GAT>TAT	p.D1118Y	RC3H1_uc010pms.1_Missense_Mutation_p.D1109Y|RC3H1_uc001gjv.2_Missense_Mutation_p.D1110Y|RC3H1_uc010pmt.1_Missense_Mutation_p.D1119Y	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	1118					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCATTATTATCCCCTCCTCCC	0.463		NA											16	68					1.57e-10	2.04e-10	1	0
KCNT2	343450	broad.mit.edu	37	1	196303004	196303004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196303004G>C	uc001gtd.1	-	17	2030	c.1970C>G	c.(1969-1971)CCA>CGA	p.P657R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.P607R|KCNT2_uc001gtf.1_Missense_Mutation_p.P657R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.P657R|KCNT2_uc001gth.1_Missense_Mutation_p.P178R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	657	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTCTTCATCTGGTGTAGTTTC	0.353		NA											5	24					0	0	0	0
CFHR4	10877	broad.mit.edu	37	1	196882035	196882035	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196882035C>T	uc001gto.2	+	3	491	c.422C>T	c.(421-423)GCA>GTA	p.A141V	CFHR4_uc009wyy.2_Missense_Mutation_p.A387V|CFHR4_uc001gtp.2_Missense_Mutation_p.A388V	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	141	Sushi 2.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						GGATGGTCAGCACAACCAATT	0.299		NA											35	95					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197390936	197390936	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:197390936T>A	uc001gtz.2	+	6	2113	c.1978T>A	c.(1978-1980)TCT>ACT	p.S660T	CRB1_uc010poz.1_Missense_Mutation_p.S591T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S548T|CRB1_uc010ppb.1_Missense_Mutation_p.S660T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.S141T|CRB1_uc001gub.1_Missense_Mutation_p.S309T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	660	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GAACATCTCGTCTGGCTCATC	0.443		NA											35	68					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218554	208218554	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:208218554C>T	uc001hgz.2	-	19	4255	c.3497G>A	c.(3496-3498)GGC>GAC	p.G1166D		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1166	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.388		NA											3	77					0	0	0	0
LYST	1130	broad.mit.edu	37	1	235850334	235850334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:235850334G>A	uc001hxj.2	-	48	10890	c.10715C>T	c.(10714-10716)GCT>GTT	p.A3572V	LYST_uc001hxi.2_Missense_Mutation_p.A796V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3572	WD 3.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCACCCAAGCACAACTAGT	0.363		NA							Chediak-Higashi_syndrome				4	92					0	0	0	0
RGS7	6000	broad.mit.edu	37	1	240979618	240979618	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:240979618T>A	uc001hyv.2	-	11	1112	c.782A>T	c.(781-783)CAG>CTG	p.Q261L	RGS7_uc010pyh.1_Missense_Mutation_p.Q235L|RGS7_uc010pyj.1_Missense_Mutation_p.Q177L|RGS7_uc001hyu.2_Missense_Mutation_p.Q261L|RGS7_uc009xgn.1_Missense_Mutation_p.Q208L|RGS7_uc001hyw.2_Missense_Mutation_p.Q261L|RGS7_uc001hyt.2_Missense_Mutation_p.Q93L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	261	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACTCACCTGTTGTTGTAA	0.373		NA											30	91					0	0	0	0
RGS7	6000	broad.mit.edu	37	1	241099909	241099909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:241099909G>T	uc001hyv.2	-	5	654	c.324C>A	c.(322-324)TAC>TAA	p.Y108*	RGS7_uc010pyh.1_Nonsense_Mutation_p.Y82*|RGS7_uc010pyj.1_Nonsense_Mutation_p.Y24*|RGS7_uc001hyu.2_Nonsense_Mutation_p.Y108*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.Y108*	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	108	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGAAACCGGTAAAAGGTGC	0.403		NA											15	58					2.32e-05	2.63e-05	1	0
OR2T1	26696	broad.mit.edu	37	1	248569749	248569749	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248569749T>C	uc010pzm.1	+	1	454	c.454T>C	c.(454-456)TTC>CTC	p.F152L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	152	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCAACACTTCCTCTACCT	0.478		NA											43	104					0	0	0	0
TAF3	83860	broad.mit.edu	37	10	8006137	8006137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:8006137C>T	uc010qbd.1	+	3	664	c.664C>T	c.(664-666)CAA>TAA	p.Q222*		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	222					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						AATAAATACTCAAAAGATCCC	0.507		NA											27	46					0	0	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197132	32197132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:32197132C>A	uc001ivz.1	-	3	922	c.652G>T	c.(652-654)GAA>TAA	p.E218*	ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwd.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.E216*	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				CTGCTAAGTTCATCACCAGAT	0.378		NA											16	56					6.72e-11	8.78e-11	1	0
ZNF33A	7581	broad.mit.edu	37	10	38345088	38345088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:38345088G>A	uc001izh.2	+	5	2211	c.2033G>A	c.(2032-2034)GGA>GAA	p.G678E	ZNF33A_uc001izg.2_Missense_Mutation_p.G679E|ZNF33A_uc010qev.1_Missense_Mutation_p.G685E|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	678	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GTAAAATCAGGACTTATTTTC	0.388		NA											20	92					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48387902	48387902	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:48387902G>T	uc001jez.2	-	1	3090	c.2976C>A	c.(2974-2976)CTC>CTA	p.L992L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	992	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGTCTCCGGAGAGCATCTGCA	0.602		NA											31	91					6.04e-23	8.63e-23	1	0
C10orf72	196740	broad.mit.edu	37	10	50255051	50255051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50255051T>A	uc001jhf.2	-	7	843	c.814A>T	c.(814-816)AAA>TAA	p.K272*		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	272	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CTCTGTGGTTTCAGCAGCTTC	0.468		NA											5	174					0	0	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820091	50820091	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50820091G>A	uc001jhw.2	+	1	1745	c.1305G>A	c.(1303-1305)GGG>GGA	p.G435G	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	435	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGCGCTCGGGCCCATAGTGG	0.627		NA											10	18					0	0	0	0
CHAT	1103	broad.mit.edu	37	10	50828553	50828553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50828553T>G	uc001jhz.2	+	4	745	c.592T>G	c.(592-594)TGG>GGG	p.W198G	CHAT_uc001jhv.1_Missense_Mutation_p.W80G|CHAT_uc001jhx.1_Missense_Mutation_p.W80G|CHAT_uc001jhy.1_Missense_Mutation_p.W80G|CHAT_uc001jia.2_Missense_Mutation_p.W80G|CHAT_uc010qgs.1_Missense_Mutation_p.W80G	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	198					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTCTGAGTACTGGCTGAATGA	0.597		NA											40	85					0	0	0	0
P4HA1	5033	broad.mit.edu	37	10	74813238	74813238	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:74813238T>A	uc010qka.1	-	7	908	c.574A>T	c.(574-576)AGG>TGG	p.R192W	P4HA1_uc001jtg.2_Missense_Mutation_p.R192W|P4HA1_uc001jth.2_Missense_Mutation_p.R192W|P4HA1_uc010qkb.1_Missense_Mutation_p.R192W|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	192						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGTTGCCTTAGGGCTTGT	0.443		NA											37	90					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	95791541	95791541	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:95791541T>C	uc001kjk.2	+	2	1372	c.738T>C	c.(736-738)AAT>AAC	p.N246N	PLCE1_uc010qnx.1_Silent_p.N246N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	246					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ATTGTGATAATAAGAATGAGC	0.398		NA											21	25					0	0	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702062	96702062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:96702062G>A	uc001kka.3	+	3	470	c.445G>A	c.(445-447)GCC>ACC	p.A149T	CYP2C9_uc009xut.2_Missense_Mutation_p.A149T|CYP2C9_uc001kjz.2_Missense_Mutation_p.A149T	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	149					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCAAGAGGAAGCCCGCTGCCT	0.502		NA											34	41					0	0	0	0
SHOC2	8036	broad.mit.edu	37	10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:112724466C>G	uc001kzl.3	+	2	699	c.350C>G	c.(349-351)TCA>TGA	p.S117*	SHOC2_uc009xxx.2_Nonsense_Mutation_p.S117*|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S117*	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	117	LRR 1.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383		NA											27	47					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124336232	124336232	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:124336232T>A	uc001lgk.1	+	7	707	c.601T>A	c.(601-603)TGC>AGC	p.C201S	DMBT1_uc001lgl.1_Missense_Mutation_p.C201S|DMBT1_uc001lgm.1_Missense_Mutation_p.C201S|DMBT1_uc009xzz.1_Missense_Mutation_p.C201S|DMBT1_uc010qtx.1_Missense_Mutation_p.C201S|DMBT1_uc009yaa.1_Missense_Mutation_p.C53S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	201	SRCR 1.				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)				TGGTGTTATCTGCTCAGGTAG	0.358		NA											21	31					0	0	0	0
MGMT	4255	broad.mit.edu	37	10	131565234	131565234	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:131565234G>A	uc001lkh.2	+	5	716	c.690G>A	c.(688-690)TCG>TCA	p.S230S		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAGCTACCTCGGGCTCCCCGC	0.632		NA						Direct_reversal_of_damage					15	17					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1271213	1271213	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:1271213C>T	uc009ycr.1	+	51	14648	c.14522C>T	c.(14521-14523)ACG>ATG	p.T4841M	MUC5B_uc001ltb.2_Missense_Mutation_p.T4371M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642		NA											10	78					0	0	0	0
OR52E4	390081	broad.mit.edu	37	11	5906037	5906037	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:5906037G>T	uc010qzs.1	+	1	515	c.515G>T	c.(514-516)GGG>GTG	p.G172V	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTCTGTGGGCATAACATC	0.453		NA											32	57					8.74e-17	1.2e-16	1	0
NRIP3	56675	broad.mit.edu	37	11	9009771	9009771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9009771C>A	uc001mhg.2	-	2	347	c.233G>T	c.(232-234)AGC>ATC	p.S78I	NRIP3_uc010rbu.1_Missense_Mutation_p.S78I	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	78					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACGGGGACCGCTTCGGAGCTT	0.493		NA											42	54					2.27e-22	3.23e-22	1	0
WEE1	7465	broad.mit.edu	37	11	9598747	9598747	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9598747G>T	uc001mhs.2	+	5	1331	c.1078G>T	c.(1078-1080)GTT>TTT	p.V360F	WEE1_uc001mht.2_Missense_Mutation_p.V146F|WEE1_uc001mhu.2_Missense_Mutation_p.V146F	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	360	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCTCATGTAGTTCGATATTT	0.358		NA											35	61					5.83e-16	8.01e-16	1	0
SAAL1	113174	broad.mit.edu	37	11	18112026	18112026	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:18112026T>A	uc001mnq.2	-	5	478	c.428A>T	c.(427-429)CAC>CTC	p.H143L	SAAL1_uc001mnr.2_Missense_Mutation_p.H143L|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.H143L	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	143					acute-phase response	extracellular region	binding				0						ATACAAACAGTGCAATAACAC	0.318		NA											3	16					0	0	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701258	46701258	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:46701258G>A	uc001ndd.2	-	11	1036	c.967C>T	c.(967-969)CGG>TGG	p.R323W		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAAGCTCCCGGAGGAAGGTC	0.612		NA											15	80					0	0	0	0
AGBL2	79841	broad.mit.edu	37	11	47712048	47712048	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:47712048T>A	uc001ngg.2	-	9	1311	c.1211A>T	c.(1210-1212)CAA>CTA	p.Q404L	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.Q366L|AGBL2_uc001ngh.1_Missense_Mutation_p.Q348L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	404					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GAGGTAGCATTGCAAATCAGT	0.468		NA											14	58					0	0	0	0
OR5D18	219438	broad.mit.edu	37	11	55587247	55587247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:55587247G>T	uc010rin.1	+	1	142	c.142G>T	c.(142-144)GTG>TTG	p.V48L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TGGGTTGATTGTGATCATCAA	0.458		NA											27	91					1.55e-18	2.17e-18	1	0
OR1S2	219958	broad.mit.edu	37	11	57971606	57971606	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:57971606T>G	uc010rkb.1	-	1	48	c.48A>C	c.(46-48)CAA>CAC	p.Q16H		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				TTTGGTTTTCTTGATGCATAT	0.408		NA											11	66					0	0	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329824	64329824	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:64329824C>T	uc001oai.2	+	4	1112	c.738C>T	c.(736-738)GGC>GGT	p.G246G	SLC22A11_uc001oah.1_Missense_Mutation_p.R212W|SLC22A11_uc001oaj.2_Silent_p.G246G|SLC22A11_uc009ypq.2_Silent_p.G246G|SLC22A11_uc001oak.1_Silent_p.G75G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	246	Helical; (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	CGGCGCTGGGCGGCCTGGCCT	0.632		NA											17	99					0	0	0	0
PRCP	5547	broad.mit.edu	37	11	82561547	82561547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:82561547C>T	uc001ozs.2	-	4	525	c.412G>A	c.(412-414)GAT>AAT	p.D138N	PRCP_uc001ozr.2_Missense_Mutation_p.D159N	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	138					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TGTCTGGAATCCTAAAGAAAT	0.393		NA											21	53					0	0	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924356	105924356	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:105924356A>T	uc001pja.2	-	4	1700	c.1060T>A	c.(1060-1062)TGT>AGT	p.C354S	KBTBD3_uc001pjb.2_Missense_Mutation_p.C354S|KBTBD3_uc009yxm.2_Missense_Mutation_p.C275S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	350	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTTCGACAACATTTCCCTTTG	0.428		NA											19	36					0	0	0	0
C11orf87	399947	broad.mit.edu	37	11	109294845	109294845	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:109294845T>G	uc001pkn.2	+	2	860	c.486T>G	c.(484-486)TGT>TGG	p.C162W	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	162	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						AGGGTCCCTGTGCTCCTCCGC	0.672		NA											7	40					0	0	0	0
MLL	4297	broad.mit.edu	37	11	118343463	118343463	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:118343463G>A	uc001pta.2	+	3	1612	c.1589G>A	c.(1588-1590)AGG>AAG	p.R530K	MLL_uc001ptb.2_Missense_Mutation_p.R530K|MLL_uc001psz.1_Missense_Mutation_p.R563K|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	530					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGAAGCAGAAGGTATTCAGTG	0.498		NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								13	85					0	0	0	0
OR6X1	390260	broad.mit.edu	37	11	123625128	123625128	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:123625128G>A	uc010rzy.1	-	1	99	c.99C>T	c.(97-99)TAC>TAT	p.Y33Y		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGTTAATATGTAGGTGAGAA	0.423		NA											13	94					0	0	0	0
GLB1L3	112937	broad.mit.edu	37	11	134177072	134177072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:134177072G>A	uc009zdf.2	+	10	1291	c.931G>A	c.(931-933)GGA>AGA	p.G311R	GLB1L3_uc010scu.1_Missense_Mutation_p.G12R|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	311					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CGACAGATGGGGAGATAAGCA	0.433		NA											12	13					0	0	0	0
FGF6	2251	broad.mit.edu	37	12	4554546	4554546	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:4554546C>A	uc001qmr.1	-	1	235	c.191G>T	c.(190-192)GGG>GTG	p.G64V		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	64					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCAGCTAGCCCGGCGCGAGA	0.647		NA											21	79					1.77e-15	2.42e-15	1	0
KCNA5	3741	broad.mit.edu	37	12	5154798	5154798	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:5154798C>T	uc001qni.2	+	1	1714	c.1485C>T	c.(1483-1485)ATC>ATT	p.I495I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	495	Helical; Name=Segment S6; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGGGCAAGATCGTGGGCTCGC	0.602		NA											25	79					0	0	0	0
RERGL	79785	broad.mit.edu	37	12	18234236	18234236	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:18234236G>A	uc001rdq.2	-	6	701	c.507C>T	c.(505-507)ATC>ATT	p.I169I	RERGL_uc001rdr.2_Silent_p.I168I	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	169	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0						GGATGTCCTTGATAATTCTGA	0.408		NA											21	61					0	0	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350088	21350088	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:21350088C>A	uc001req.3	+	8	1040	c.936C>A	c.(934-936)ACC>ACA	p.T312T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	312	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTAATTTGACCAATCAAGGAA	0.323		NA											15	39					3.46e-05	3.92e-05	1	0
BICD1	636	broad.mit.edu	37	12	32458869	32458869	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:32458869C>T	uc001rku.2	+	4	899	c.818C>T	c.(817-819)GCC>GTC	p.A273V	BICD1_uc001rkv.2_Missense_Mutation_p.A273V|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	273					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCAAATTTGCCGAGGATGGG	0.448		NA											4	39					0	0	0	0
KRT1	3848	broad.mit.edu	37	12	53072487	53072487	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53072487C>T	uc001sau.1	-	2	704	c.645G>A	c.(643-645)CTG>CTA	p.L215L	KRT1_uc001sav.1_Silent_p.L215L	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	215	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						CTACCTGCTGCAGCAGCTCCC	0.463		NA											25	51					0	0	0	0
KRT18	3875	broad.mit.edu	37	12	53343350	53343350	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53343350G>A	uc001sbe.2	+	2	462	c.393G>A	c.(391-393)AAG>AAA	p.K131K	KRT18_uc009zmn.1_Silent_p.K131K|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Silent_p.K131K|KRT18_uc009zmo.2_Silent_p.K131K|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_5'UTR	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	131	Rod.|Linker 1.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						ATTACTTCAAGATCATCGAGG	0.557		NA											9	29					0	0	0	0
OR6C3	254786	broad.mit.edu	37	12	55726162	55726162	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:55726162G>T	uc010spj.1	+	1	678	c.678G>T	c.(676-678)CCG>CCT	p.P226P		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGAGAATCCCGTCTGCCAGTC	0.348		NA											41	67					1.23e-20	1.73e-20	1	0
TSPAN8	7103	broad.mit.edu	37	12	71523125	71523125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:71523125G>T	uc009zrt.1	-	7	808	c.646C>A	c.(646-648)CTG>ATG	p.L216M	TSPAN8_uc001swk.1_Missense_Mutation_p.L216M|TSPAN8_uc001swj.1_Missense_Mutation_p.L216M	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	216	Helical; (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATAACTGCCAGTCCAAATGAT	0.274		NA											3	21					1.24e-05	1.41e-05	1	0
NAV3	89795	broad.mit.edu	37	12	78444759	78444759	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:78444759C>T	uc001syp.2	+	11	2521	c.2348C>T	c.(2347-2349)ACG>ATG	p.T783M	NAV3_uc001syo.2_Missense_Mutation_p.T783M|NAV3_uc010sub.1_Missense_Mutation_p.T283M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ATGTATACCACGCCTCTCCGT	0.552		NA								HNSCC(70;0.22)			10	30					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:83290168C>G	uc001szt.2	+	3	1658	c.1226C>G	c.(1225-1227)ACG>AGG	p.T409R	TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	409	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GTTCCTGCCACGAACCTGTTT	0.418		NA											10	121					0	0	0	0
BTG1	694	broad.mit.edu	37	12	92538007	92538007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:92538007C>A	uc001tby.3	-	2	727	c.365G>T	c.(364-366)TGT>TTT	p.C122F	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	B-cell translocation protein 1	122					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity				0		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ATACAGCACACAGATGGAGCC	0.512		NA	T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	71					4.27e-12	5.67e-12	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:99640640C>T	uc001tge.1	-	13	2176	c.1759G>A	c.(1759-1761)GAC>AAC	p.D587N	ANKS1B_uc001tgf.1_Missense_Mutation_p.D167N|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D553N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473		NA											40	113					0	0	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797842	100797842	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:100797842C>A	uc010svi.1	+	9	1393	c.1080C>A	c.(1078-1080)CAC>CAA	p.H360Q	SLC17A8_uc009ztx.2_Missense_Mutation_p.H310Q	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	360	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						CAGTCCCACACATGGTTATGA	0.433		NA											17	45					2.39e-15	3.26e-15	1	0
TMEM116	89894	broad.mit.edu	37	12	112374541	112374541	+	Silent	SNP	G	G	A	rs143338734		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:112374541G>A	uc001ttc.1	-	10	923	c.267C>T	c.(265-267)ATC>ATT	p.I89I	TMEM116_uc001ttd.1_Silent_p.I181I|TMEM116_uc001tte.1_Silent_p.I146I|TMEM116_uc001ttf.1_Silent_p.I89I|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Silent_p.I181I	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	89	Helical; (Potential).					integral to membrane				ovary(1)	1						GGAAAATGGCGATACCATAAA	0.473		NA											20	59					0	0	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489976	123489976	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:123489976G>C	uc001uej.1	-	6	902	c.763C>G	c.(763-765)CGT>GGT	p.R255G	PITPNM2_uc001uek.1_Missense_Mutation_p.R255G|PITPNM2_uc009zxu.1_Missense_Mutation_p.R255G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	255					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCATCTTACGGGAAAGCATG	0.637		NA											39	113					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25451323	25451323	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:25451323T>C	uc001upr.2	+	34	4813	c.4772T>C	c.(4771-4773)ATG>ACG	p.M1591T	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.M1587T|RNF17_uc001ups.2_Missense_Mutation_p.M1530T|RNF17_uc010aac.2_Missense_Mutation_p.M783T|RNF17_uc010aad.2_Missense_Mutation_p.M601T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1591					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTGTGTCCATGGTAAGTGTC	0.413		NA											15	17					0	0	0	0
GPR12	2835	broad.mit.edu	37	13	27333487	27333487	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:27333487T>A	uc010aal.2	-	2	700	c.478A>T	c.(478-480)ATG>TTG	p.M160L	GPR12_uc010tdl.1_Missense_Mutation_p.M1L	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	160	Helical; Name=4; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ATGACGAGCATGACATAGGTA	0.592		NA											14	17					0	0	0	0
ATP7B	540	broad.mit.edu	37	13	52549007	52549007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:52549007C>T	uc001vfw.2	-	2	506	c.349G>A	c.(349-351)GGG>AGG	p.G117R	ATP7B_uc010adv.2_Missense_Mutation_p.G117R|ATP7B_uc001vfx.2_Missense_Mutation_p.G117R|ATP7B_uc001vfy.2_Missense_Mutation_p.G117R|ATP7B_uc010tgt.1_Missense_Mutation_p.G117R|ATP7B_uc010tgu.1_Missense_Mutation_p.G117R|ATP7B_uc010tgv.1_Missense_Mutation_p.G117R|ATP7B_uc010tgw.1_Missense_Mutation_p.G85R	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	117	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCATGTCCCCAATTTGATGG	0.562		NA							Wilson_disease				32	50					0	0	0	0
DOCK9	23348	broad.mit.edu	37	13	99449735	99449735	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:99449735A>G	uc001vnt.2	-	53	6025	c.5970T>C	c.(5968-5970)GCT>GCC	p.A1990A	DOCK9_uc001vnw.2_Silent_p.A1989A|DOCK9_uc001vnq.2_Silent_p.A537A|DOCK9_uc001vnr.2_Silent_p.A619A|DOCK9_uc010tin.1_Silent_p.A608A|DOCK9_uc001vns.2_Silent_p.A525A|DOCK9_uc010tio.1_Silent_p.A645A|DOCK9_uc010tip.1_Silent_p.A686A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1990	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGTGGGCCAGCATTGACCT	0.423		NA											7	8					0	0	0	0
C13orf28	122258	broad.mit.edu	37	13	113086835	113086835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:113086835G>A	uc001vsd.1	+	6	554	c.523G>A	c.(523-525)GGA>AGA	p.G175R		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	175						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					AAGATCTTCAGGTAGATTGGA	0.408		NA											11	16					0	0	0	0
MYH6	4624	broad.mit.edu	37	14	23855572	23855572	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:23855572C>T	uc001wjv.2	-	33	4978	c.4911G>A	c.(4909-4911)ATG>ATA	p.M1637I		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1637	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCGGCAGCCATGCGGTTGG	0.607		NA											8	79					0	0	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884560	24884560	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:24884560C>G	uc001wpf.3	+	9	3923	c.3605C>G	c.(3604-3606)CCC>CGC	p.P1202R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1202					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						AGCCAGGGCCCCCAGTCAGGG	0.622		NA											33	146					0	0	0	0
FOXA1	3169	broad.mit.edu	37	14	38061468	38061468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:38061468G>A	uc001wuf.2	-	2	833	c.521C>T	c.(520-522)TCG>TTG	p.S174L	FOXA1_uc010tpz.1_Missense_Mutation_p.S141L	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	174	Fork-head.				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGAGATGTACGAGTAGGGCGG	0.512		NA											27	166					0	0	0	0
SIP1	8487	broad.mit.edu	37	14	39597527	39597527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:39597527G>A	uc001wuq.2	+	7	630	c.608G>A	c.(607-609)GGA>GAA	p.G203E	SIP1_uc001wur.2_Missense_Mutation_p.G203E|SIP1_uc001wus.2_Missense_Mutation_p.G188E|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	203					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		AATTGGTTTGGAGAAAGAGAC	0.264		NA											23	127					0	0	0	0
FSCB	84075	broad.mit.edu	37	14	44975557	44975557	+	Missense_Mutation	SNP	T	T	A	rs140155770		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:44975557T>A	uc001wvn.2	-	1	943	c.634A>T	c.(634-636)AAT>TAT	p.N212Y		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	212						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403		NA											34	100					0	0	0	0
ERO1L	30001	broad.mit.edu	37	14	53112872	53112872	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:53112872C>G	uc001wzv.2	-	15	1572	c.1346G>C	c.(1345-1347)AGA>ACA	p.R449T	ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_Intron	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	ERO1-like precursor	449					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor				0	Breast(41;0.226)					TCAAACTAACCTTCCAAATGC	0.333		NA											14	34					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64630217	64630217	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:64630217T>A	uc001xgm.2	+	89	16627	c.16397T>A	c.(16396-16398)ATG>AAG	p.M5466K	SYNE2_uc001xgl.2_Missense_Mutation_p.M5466K|SYNE2_uc010apy.2_Missense_Mutation_p.M1851K|SYNE2_uc001xgn.2_Missense_Mutation_p.M428K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5466	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCACCCACATGCTCCTCCCG	0.502		NA											15	51					0	0	0	0
FUT8	2530	broad.mit.edu	37	14	66208932	66208932	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:66208932A>C	uc001xin.2	+	11	2729	c.1532A>C	c.(1531-1533)TAT>TCT	p.Y511S	FUT8_uc001xio.2_Missense_Mutation_p.Y511S|FUT8_uc010tsp.1_Missense_Mutation_p.Y348S|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y511S|FUT8_uc001xiq.2_Missense_Mutation_p.Y382S|FUT8_uc001xis.2_Missense_Mutation_p.Y105S	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	511	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATTGCCATTTATGCTCACCAA	0.433		NA											38	77					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030105	95030105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:95030105C>A	uc001ydk.2	+	2	352	c.286C>A	c.(286-288)CAC>AAC	p.H96N	SERPINA4_uc010avd.2_Missense_Mutation_p.H133N|SERPINA4_uc001ydl.2_Missense_Mutation_p.H96N	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	96					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GGCCTGCTCACACAGCCGCAG	0.607		NA											15	37					9.17e-09	1.14e-08	1	0
AQR	9716	broad.mit.edu	37	15	35224630	35224630	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:35224630C>T	uc001ziv.2	-	11	970	c.789G>A	c.(787-789)CTG>CTA	p.L263L		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	263						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTGGGTAGCAGGGCCTGGG	0.418		NA											18	31					0	0	0	0
SPRED1	161742	broad.mit.edu	37	15	38643248	38643248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:38643248C>T	uc001zka.3	+	7	1053	c.718C>T	c.(718-720)CAA>TAA	p.Q240*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	240	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTCAGCTTTCAAGATGAGGA	0.328		NA							Legius_syndrome				3	21					0	0	0	0
TGM5	9333	broad.mit.edu	37	15	43552359	43552359	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:43552359C>G	uc001zrd.1	-	3	335	c.327G>C	c.(325-327)ACG>ACC	p.T109T	TGM5_uc001zre.1_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	109			T -> M.		epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCACGGCCGCCGTGGGAGGAG	0.612		NA											10	100					0	0	0	0
FBN1	2200	broad.mit.edu	37	15	48807700	48807700	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:48807700T>A	uc001zwx.1	-	12	1680	c.1352A>T	c.(1351-1353)GAT>GTT	p.D451V		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	451	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGCAGTAATCAGTAACGTT	0.438		NA											10	84					0	0	0	0
SV2B	9899	broad.mit.edu	37	15	91835755	91835755	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:91835755A>G	uc002bqv.2	+	12	2416	c.2025A>G	c.(2023-2025)CCA>CCG	p.P675P	SV2B_uc010uqv.1_Silent_p.P524P|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	675	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGACTGCCAGAGACTCGAG	0.507		NA											8	60					0	0	0	0
MEFV	4210	broad.mit.edu	37	16	3293434	3293434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:3293434C>A	uc002cun.1	-	10	2093	c.2053G>T	c.(2053-2055)GAG>TAG	p.E685*		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	685	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	TAGCCATTCTCTGGCGACAGA	0.552		NA											50	113					1.44e-25	2.07e-25	1	0
CPPED1	55313	broad.mit.edu	37	16	12798612	12798612	+	Missense_Mutation	SNP	C	C	T	rs118082950	by1000genomes	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:12798612C>T	uc002dca.3	-	3	695	c.584G>A	c.(583-585)CGG>CAG	p.R195Q	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	195							hydrolase activity|metal ion binding				0						CTGGCAGTGCCGCTGCCTCGC	0.602		NA											26	42					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58608535	58608535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:58608535C>A	uc002env.2	-	16	2250	c.1957G>T	c.(1957-1959)GCC>TCC	p.A653S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A653S|CNOT1_uc002enx.2_Missense_Mutation_p.A653S|CNOT1_uc002enz.1_Missense_Mutation_p.A82S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCAGACAGGCCAACATTGTC	0.418		NA											23	64					6.36e-07	7.57e-07	1	0
MYOCD	93649	broad.mit.edu	37	17	12618891	12618891	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:12618891G>A	uc002gnn.2	+	3	476	c.177G>A	c.(175-177)AAG>AAA	p.K59K	MYOCD_uc002gno.2_Silent_p.K59K	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	59					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATAGTGACAAGGTAATTTTTG	0.408		NA											12	46					0	0	0	0
KSR1	8844	broad.mit.edu	37	17	25932786	25932786	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:25932786G>T	uc010crg.2	+	15	2041	c.1596G>T	c.(1594-1596)GTG>GTT	p.V532V	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.V311V	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	667	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGAGAACGTGGTGCTCTTCA	0.597		NA											4	7					0.00024832	0.000270796	1	0
LHX1	3975	broad.mit.edu	37	17	35297814	35297814	+	Splice_Site	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:35297814G>C	uc002hnh.1	+	2	1393	c.397_splice	c.e2+1	p.A133_splice	LHX1_uc010cux.1_Splice_Site_p.A41_splice	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1						cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				CTTCACTCGGGTGAGGCCCCA	0.562		NA											5	22					0	0	0	0
MED1	5469	broad.mit.edu	37	17	37564503	37564503	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:37564503G>T	uc002hrv.3	-	17	4183	c.3971C>A	c.(3970-3972)CCA>CAA	p.P1324Q	MED1_uc010wee.1_Missense_Mutation_p.P1152Q|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1324	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGTCCAGTGGGTCTTCACC	0.512		NA								HNSCC(31;0.082)			34	84					4.63e-21	6.57e-21	1	0
KRT24	192666	broad.mit.edu	37	17	38856487	38856487	+	Missense_Mutation	SNP	C	C	G	rs150081982		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:38856487C>G	uc002hvd.2	-	4	1061	c.1004G>C	c.(1003-1005)CGG>CCG	p.R335P		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	335	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CTTGTTGAACCGCTCCTCAGC	0.547		NA											37	98					0	0	0	0
KCNH4	23415	broad.mit.edu	37	17	40330942	40330942	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:40330942A>G	uc002hzb.2	-	2	512	c.179T>C	c.(178-180)GTC>GCC	p.V60A		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	60	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCTGCATGACCTCGGTGCG	0.637		NA											16	34					0	0	0	0
AOC3	8639	broad.mit.edu	37	17	41003593	41003593	+	Missense_Mutation	SNP	G	G	A	rs402680		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:41003593G>A	uc002ibv.2	+	1	393	c.233G>A	c.(232-234)CGG>CAG	p.R78Q		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	78	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTGACCCAGCGGCTGGGGCCA	0.657		NA											25	118					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78363670	78363670	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:78363670C>G	uc002jyh.1	+	41	9680	c.9457C>G	c.(9457-9459)CAG>GAG	p.Q3153E	uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.Q97E	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCTCTGGCAGTTCCTGTC	0.537		NA											27	46					0	0	0	0
PTPRM	5797	broad.mit.edu	37	18	8380391	8380391	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:8380391C>T	uc002knn.3	+	27	4348	c.3845C>T	c.(3844-3846)TCC>TTC	p.S1282F	PTPRM_uc010dkv.2_Missense_Mutation_p.S1295F|PTPRM_uc010wzl.1_Missense_Mutation_p.S1069F	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1282	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CACTGCACATCCGTAGTTATG	0.458		NA											14	39					0	0	0	0
POTEC	388468	broad.mit.edu	37	18	14542858	14542858	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:14542858G>C	uc010dln.2	-	1	742	c.288C>G	c.(286-288)AGC>AGG	p.S96R	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	96										skin(3)	3						TGCCCATCTTGCTCCTGAGCG	0.612		NA											9	206					0	0	0	0
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:29126100G>A	uc002kwu.3	+	15	2939	c.2751G>A	c.(2749-2751)GCG>GCA	p.A917A	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	917	Desmoglein repeat 2.|Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463		NA											4	92					0	0	0	0
C18orf34	374864	broad.mit.edu	37	18	30554564	30554564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:30554564C>A	uc002kxn.2	-	21	2612	c.2470G>T	c.(2470-2472)GCC>TCC	p.A824S	C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.A288S|C18orf34_uc010xbr.1_Missense_Mutation_p.A848S|C18orf34_uc010dmf.1_Missense_Mutation_p.A144S|C18orf34_uc002kxo.2_Missense_Mutation_p.A786S|C18orf34_uc002kxp.2_Missense_Mutation_p.A824S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	824										ovary(1)	1						TGGAAGTTGGCCAGCCTCATC	0.493		NA											14	41					0.00316338	0.00335184	1	0
NARS	4677	broad.mit.edu	37	18	55274528	55274528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:55274528C>T	uc002lgs.2	-	9	1067	c.839G>A	c.(838-840)GGT>GAT	p.G280D	NARS_uc002lgt.2_Missense_Mutation_p.G279D|NARS_uc010xea.1_Missense_Mutation_p.G31D|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_3'UTR|NARS_uc010xed.1_3'UTR	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	280					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	TGTGGCACCACCTTCTACTTG	0.438		NA											28	58					0	0	0	0
ZNF532	55205	broad.mit.edu	37	18	56651435	56651435	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:56651435C>G	uc002lho.2	+	11	4190	c.3643C>G	c.(3643-3645)CAC>GAC	p.H1215D	ZNF532_uc002lhp.2_Missense_Mutation_p.H1213D|ZNF532_uc010xeg.1_Missense_Mutation_p.H1213D|ZNF532_uc002lhr.2_Missense_Mutation_p.H1213D|ZNF532_uc002lhs.2_Missense_Mutation_p.H1213D|ZNF532_uc010xeh.1_Missense_Mutation_p.H303D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1215	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CTACACGTCTCACGTCTCTCT	0.527		NA											7	58					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63511088	63511088	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:63511088T>C	uc002ljz.2	+	7	1347	c.1022T>C	c.(1021-1023)ATA>ACA	p.I341T	CDH7_uc002lka.2_Missense_Mutation_p.I341T|CDH7_uc002lkb.2_Missense_Mutation_p.I341T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	341	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				ACGCTACGGATAGAAGCTGCA	0.443		NA											24	49					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64235938	64235938	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:64235938C>G	uc002lkc.1	-	3	343	c.205G>C	c.(205-207)GAT>CAT	p.D69H	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.D69H|CDH19_uc002lkd.2_Missense_Mutation_p.D69H	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	69	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TTGTCTAAATCAGATCTTAGC	0.333		NA											13	45					0	0	0	0
CD226	10666	broad.mit.edu	37	18	67531612	67531612	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:67531612T>A	uc010dqo.2	-	6	1396	c.949A>T	c.(949-951)ACA>TCA	p.T317S	CD226_uc002lkm.3_Missense_Mutation_p.T317S	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	317	Cytoplasmic (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				TCCTCTCTTGTATCATCCATG	0.388		NA											33	61					0	0	0	0
CBLN2	147381	broad.mit.edu	37	18	70209049	70209049	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:70209049T>A	uc002lku.2	-	2	582	c.347A>T	c.(346-348)TAT>TTT	p.Y116F	CBLN2_uc002lkv.2_Missense_Mutation_p.Y116F	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	116	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				CTGGTCGAAATAGATGGTCAT	0.706		NA											10	11					0	0	0	0
THEG	51298	broad.mit.edu	37	19	371226	371226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:371226G>C	uc002lol.2	-	6	771	c.732C>G	c.(730-732)TTC>TTG	p.F244L	THEG_uc002lom.2_Missense_Mutation_p.F220L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	244					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGCTCCAGAAGTTATCAC	0.642		NA											52	189					0	0	0	0
TMEM146	257062	broad.mit.edu	37	19	5778610	5778610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:5778610G>T	uc002mda.2	+	22	2381	c.2320G>T	c.(2320-2322)GCC>TCC	p.A774S		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	774	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCAGTTCAGGGCCTCAGCCAC	0.652		NA											86	68					7.69e-47	1.13e-46	1	0
ACER1	125981	broad.mit.edu	37	19	6306747	6306747	+	Missense_Mutation	SNP	C	C	T	rs144461069		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6306747C>T	uc002mel.2	-	6	851	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	258	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						GTCATCACCCCGGATTTCCAC	0.577		NA											14	61					0	0	0	0
C3	718	broad.mit.edu	37	19	6693060	6693060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6693060C>G	uc002mfm.2	-	26	3327	c.3265G>C	c.(3265-3267)GCT>CCT	p.A1089P	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1089					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGGTTGACAGCCAGAGAGAAG	0.587		NA											28	177					0	0	0	0
CCL25	6370	broad.mit.edu	37	19	8122770	8122770	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8122770G>C	uc002mjd.2	+	4	411	c.411G>C	c.(409-411)AAG>AAC	p.K137N	CCL25_uc002mjc.3_Missense_Mutation_p.K136N|CCL25_uc010dvy.1_3'UTR	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	137					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0						gcagcagtaagaggaatgtct	0		NA											45	57					0	0	0	0
TRMT1	55621	broad.mit.edu	37	19	13221060	13221060	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:13221060C>A	uc002mwj.2	-	7	1181	c.931G>T	c.(931-933)GTG>TTG	p.V311L	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.V311L|TRMT1_uc002mwl.3_Missense_Mutation_p.V311L|TRMT1_uc010xmz.1_Missense_Mutation_p.V97L	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	311							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGCAGCGGCACCACGAAGCGC	0.652		NA											21	20					1.5e-11	1.98e-11	1	0
SLC5A5	6528	broad.mit.edu	37	19	17986870	17986870	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:17986870A>T	uc002nhr.3	+	5	1000	c.653A>T	c.(652-654)CAG>CTG	p.Q218L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	218	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGGCCCCGCCAGGTGCTCACG	0.577		NA											25	106					0	0	0	0
ZNF626	199777	broad.mit.edu	37	19	20808036	20808036	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:20808036A>T	uc002npb.1	-	4	797	c.647T>A	c.(646-648)CTT>CAT	p.L216H	ZNF626_uc002npc.1_Missense_Mutation_p.L140H	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	216	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGTCTAGTAAGGCTACAAGA	0.388		NA											31	35					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30934689	30934689	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:30934689G>T	uc002nsu.1	+	2	358	c.220G>T	c.(220-222)GGC>TGC	p.G74C	ZNF536_uc010edd.1_Missense_Mutation_p.G74C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCCCATGAGCGGCCAGCCCAT	0.682		NA											30	47					9.65e-13	1.29e-12	1	0
ANKRD27	84079	broad.mit.edu	37	19	33110271	33110271	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33110271G>A	uc002ntn.1	-	20	2058	c.1902C>T	c.(1900-1902)TCC>TCT	p.S634S		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	634					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AGCGCTGCGGGGACTGCACAG	0.602		NA											20	52					0	0	0	0
RHPN2	85415	broad.mit.edu	37	19	33517463	33517463	+	Silent	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33517463G>C	uc002nuf.2	-	3	327	c.261C>G	c.(259-261)CTC>CTG	p.L87L	RHPN2_uc010xro.1_5'UTR|RHPN2_uc002nue.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	87	REM.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GCTCTTCCTTGAGCATCTGCA	0.547		NA											4	262					0	0	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278998	36278998	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:36278998G>T	uc002obs.1	+	21	3133	c.3048G>T	c.(3046-3048)AGG>AGT	p.R1016S	ARHGAP33_uc002obt.1_Missense_Mutation_p.R1013S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R765S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1177					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TAGGGCCCAGGGGTCCCTCAC	0.672		NA											42	47					6.24e-21	8.82e-21	1	0
ZNF383	163087	broad.mit.edu	37	19	37733492	37733492	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:37733492A>T	uc002oft.1	+	8	934	c.354A>T	c.(352-354)GGA>GGT	p.G118G	ZNF383_uc002ofs.1_Silent_p.G53G|ZNF383_uc002ofu.1_Silent_p.G118G	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTTTTGGAGATGTTTTGG	0.373		NA											37	57					0	0	0	0
ZNF235	9310	broad.mit.edu	37	19	44791701	44791701	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:44791701A>G	uc002oza.3	-	5	1990	c.1887T>C	c.(1885-1887)TGT>TGC	p.C629C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.C625C|ZNF235_uc010xwx.1_Silent_p.C543C	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	629	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CACAAGTGTCACATTTATATG	0.443		NA											55	58					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54327405G>A	uc002qch.3	-	1	244	c.24C>T	c.(22-24)GAC>GAT	p.D8D	NLRP12_uc002qci.3_Silent_p.D8D|NLRP12_uc002qcj.3_Silent_p.D8D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D8D	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612		NA											15	61					0	0	0	0
CACNG6	59285	broad.mit.edu	37	19	54515283	54515283	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54515283C>A	uc002qct.2	+	4	1213	c.623C>A	c.(622-624)CCC>CAC	p.P208H	CACNG6_uc002qcu.2_Missense_Mutation_p.P162H|CACNG6_uc002qcv.2_Missense_Mutation_p.P137H	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	208						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCGGAGCCTCCCCCGGCCCCA	0.697		NA											37	46					1.63e-23	2.33e-23	1	0
ZNF667	63934	broad.mit.edu	37	19	56953604	56953604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:56953604G>A	uc002qnd.2	-	5	922	c.760C>T	c.(760-762)CAG>TAG	p.Q254*	ZNF667_uc010etl.2_Nonsense_Mutation_p.Q36*|ZNF667_uc002qne.2_Nonsense_Mutation_p.Q254*|ZNF667_uc010etm.2_Nonsense_Mutation_p.Q197*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCTGCACTGGCAGACATTC	0.358		NA											23	118					0	0	0	0
USP29	57663	broad.mit.edu	37	19	57641701	57641701	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:57641701G>T	uc002qny.2	+	4	2014	c.1658G>T	c.(1657-1659)AGT>ATT	p.S553I		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	553					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S553I(1)		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)		CCCTTGAGCAGTAGTGCACCT	0.423		NA											39	175					8.16e-20	1.15e-19	1	0
TPO	7173	broad.mit.edu	37	2	1440052	1440052	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:1440052C>A	uc002qww.2	+	5	469	c.378C>A	c.(376-378)ATC>ATA	p.I126I	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.I126I|TPO_uc002qwu.2_Silent_p.I126I|TPO_uc002qwr.2_Silent_p.I126I|TPO_uc002qwx.2_Silent_p.I126I|TPO_uc010yio.1_Silent_p.I126I|TPO_uc010yip.1_Silent_p.I126I	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	126	Extracellular (Potential).				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)	TGCTGAGCATCATTGCAAACA	0.433		NA											29	60					1.16e-09	1.48e-09	1	0
DDX1	1653	broad.mit.edu	37	2	15758345	15758345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:15758345G>A	uc002rce.2	+	16	1445	c.1157G>A	c.(1156-1158)AGG>AAG	p.R386K	DDX1_uc010yjq.1_Missense_Mutation_p.R294K	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	386	Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTTATAAATAGGATGCACAAT	0.299		NA											38	116					0	0	0	0
FAM179A	165186	broad.mit.edu	37	2	29255814	29255814	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:29255814A>G	uc010ezl.2	+	15	2378	c.2027A>G	c.(2026-2028)AAG>AGG	p.K676R	FAM179A_uc010ymm.1_Missense_Mutation_p.K621R|FAM179A_uc002rmr.3_Missense_Mutation_p.K203R|FAM179A_uc002rms.1_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	676							binding			ovary(3)|skin(1)	4						TATGGCCGGAAGATGGTGAAT	0.403		NA											4	14					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32613839	32613839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32613839C>T	uc010ezu.2	+	4	801	c.667C>T	c.(667-669)CTT>TTT	p.L223F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	223					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TACATTTCATCTTCCTCATCA	0.368		NA											14	41					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32726872	32726872	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32726872A>G	uc010ezu.2	+	47	9258	c.9124A>G	c.(9124-9126)ACC>GCC	p.T3042A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3042					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATACTGACAACCCTTAGTAA	0.403		NA											23	56					0	0	0	0
FOXN2	3344	broad.mit.edu	37	2	48600434	48600434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:48600434C>A	uc002rwh.1	+	6	1022	c.707C>A	c.(706-708)TCT>TAT	p.S236Y		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	236					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTTTCAGAATCTGATATTGAT	0.289		NA											24	55					5.62e-17	7.79e-17	1	0
PNPT1	87178	broad.mit.edu	37	2	55894127	55894127	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:55894127T>A	uc002rzf.2	-	13	1228	c.1175A>T	c.(1174-1176)CAG>CTG	p.Q392L	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	392					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAAATTACCTGTGTTTGTCC	0.318		NA											11	24					0	0	0	0
HK2	3099	broad.mit.edu	37	2	75107439	75107439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:75107439G>T	uc002snd.2	+	10	3239	c.1313G>T	c.(1312-1314)TGC>TTC	p.C438F		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	438	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GTGCCCGGCTGCGATGTCCGC	0.627		NA											77	242					1.05e-32	1.53e-32	1	0
GLI2	2736	broad.mit.edu	37	2	121728127	121728127	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:121728127A>G	uc010flp.2	+	6	1034	c.1004A>G	c.(1003-1005)AAT>AGT	p.N335S	GLI2_uc002tmq.1_Missense_Mutation_p.N7S|GLI2_uc002tmr.1_Missense_Mutation_p.N7S|GLI2_uc002tmt.3_Missense_Mutation_p.N7S|GLI2_uc002tmu.3_Missense_Mutation_p.N7S|GLI2_uc002tmv.1_Silent_p.Q205Q|GLI2_uc010flo.1_Missense_Mutation_p.N210S|GLI2_uc002tmw.1_Missense_Mutation_p.N335S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	335					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACCTCCATCAATGCCACGCCC	0.637		NA											19	70					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	137852677	137852677	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:137852677G>A	uc002tva.1	+	3	1092	c.1092G>A	c.(1090-1092)CTG>CTA	p.L364L	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.L254L	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAACTTCTGCAGCAATGTC	0.453		NA											26	16					0	0	0	0
RIF1	55183	broad.mit.edu	37	2	152321320	152321320	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:152321320A>G	uc002txm.2	+	30	5416	c.5286A>G	c.(5284-5286)ACA>ACG	p.T1762T	RIF1_uc002txl.2_Silent_p.T1762T|RIF1_uc002txn.2_Silent_p.T1762T|RIF1_uc002txo.2_Silent_p.T1762T|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1762					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTAGTGAAACAAAAAAGGCAG	0.368		NA											20	57					0	0	0	0
SCN7A	6332	broad.mit.edu	37	2	167322306	167322306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:167322306G>C	uc002udu.1	-	7	983	c.856C>G	c.(856-858)CCA>GCA	p.P286A	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	286					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						ATATAATATGGGTTTCCAGTT	0.393		NA											64	37					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179478783	179478783	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179478783C>T	uc010zfg.1	-	211	41861	c.41637G>A	c.(41635-41637)CAG>CAA	p.Q13879Q	uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.Q7574Q|TTN_uc010zfi.1_Silent_p.Q7507Q|TTN_uc010zfj.1_Silent_p.Q7382Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14806							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTACCAAACTGATATTTGG	0.343		NA											23	9					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179482708	179482708	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179482708G>T	uc010zfg.1	-	202	39890	c.39666C>A	c.(39664-39666)ATC>ATA	p.I13222I	TTN_uc010zfh.1_Silent_p.I6917I|TTN_uc010zfi.1_Silent_p.I6850I|TTN_uc010zfj.1_Silent_p.I6725I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14149							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTAGTTTGTGATCTCAGCAC	0.458		NA											24	74					2.8e-10	3.62e-10	1	0
TTN	7273	broad.mit.edu	37	2	179483562	179483562	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179483562G>T	uc010zfg.1	-	200	39235	c.39011C>A	c.(39010-39012)ACA>AAA	p.T13004K	TTN_uc010zfh.1_Missense_Mutation_p.T6699K|TTN_uc010zfi.1_Missense_Mutation_p.T6632K|TTN_uc010zfj.1_Missense_Mutation_p.T6507K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTCAGCTGTCTTGATTTT	0.403		NA											26	11					1.26e-06	1.49e-06	1	0
TTN	7273	broad.mit.edu	37	2	179494132	179494132	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179494132T>A	uc010zfg.1	-	189	36840	c.36616A>T	c.(36616-36618)ACC>TCC	p.T12206S	TTN_uc010zfh.1_Missense_Mutation_p.T5901S|TTN_uc010zfi.1_Missense_Mutation_p.T5834S|TTN_uc010zfj.1_Missense_Mutation_p.T5709S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13133							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTCACGGTGACATCCTTT	0.463		NA											46	24					0	0	0	0
SSFA2	6744	broad.mit.edu	37	2	182784173	182784173	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:182784173G>T	uc002uoi.2	+	14	3466	c.3144G>T	c.(3142-3144)ATG>ATT	p.M1048I	SSFA2_uc002uoh.2_Missense_Mutation_p.M1048I|SSFA2_uc002uoj.2_Missense_Mutation_p.M1048I|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.M895I|SSFA2_uc002uol.2_Missense_Mutation_p.M895I|SSFA2_uc002uom.2_Missense_Mutation_p.M516I	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1048						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCACTCATGGTACGCTACC	0.507		NA											56	114					1.13e-32	1.65e-32	1	0
COL3A1	1281	broad.mit.edu	37	2	189864214	189864214	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:189864214G>T	uc002uqj.1	+	31	2257	c.2140G>T	c.(2140-2142)GGG>TGG	p.G714W		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	714	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGGCCACCTGG	0.473		NA											98	49					8.79e-49	1.29e-48	1	0
MAP2	4133	broad.mit.edu	37	2	210574637	210574637	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:210574637G>T	uc002vde.1	+	12	4981	c.4733_splice	c.e12-1	p.R1578_splice	MAP2_uc002vdd.1_Splice_Site_p.R279_splice|MAP2_uc002vdf.1_Splice_Site_p.R222_splice|MAP2_uc002vdg.1_Splice_Site_p.R222_splice|MAP2_uc002vdh.1_Splice_Site_p.R279_splice|MAP2_uc002vdi.1_Splice_Site_p.R1574_splice	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGTTAATACAGGGTCAGAGCC	0.458		NA											13	21					2.27e-07	2.75e-07	1	0
FN1	2335	broad.mit.edu	37	2	216235068	216235068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:216235068C>T	uc002vfa.2	-	41	7068	c.6802G>A	c.(6802-6804)GAC>AAC	p.D2268N	FN1_uc002vfb.2_Missense_Mutation_p.D2056N|FN1_uc002vfc.2_Missense_Mutation_p.D2031N|FN1_uc002vfd.2_Missense_Mutation_p.D2212N|FN1_uc002vfe.2_Missense_Mutation_p.D2146N|FN1_uc002vff.2_Missense_Mutation_p.D2121N|FN1_uc002vfg.2_Missense_Mutation_p.D2087N|FN1_uc002vfh.2_Missense_Mutation_p.D1967N|FN1_uc002vfi.2_Missense_Mutation_p.D2237N|FN1_uc002vfj.2_Missense_Mutation_p.D2058N|FN1_uc002vez.2_Missense_Mutation_p.D431N|FN1_uc010zjp.1_Missense_Mutation_p.D805N|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Missense_Mutation_p.D510N|FN1_uc010fvd.1_Missense_Mutation_p.D328N	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2177	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGCTGGTCTTTCAGTGCC	0.522		NA											5	29					0	0	0	0
FAM83C	128876	broad.mit.edu	37	20	33874604	33874604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:33874604C>T	uc010zux.1	-	4	2096	c.1978G>A	c.(1978-1980)GCT>ACT	p.A660T	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.A315T	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	660										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGTGCGAGCAGGGCTTGAT	0.627		NA											12	37					0	0	0	0
CHD6	84181	broad.mit.edu	37	20	40068726	40068726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:40068726G>A	uc002xka.1	-	26	4099	c.3921C>T	c.(3919-3921)TGC>TGT	p.C1307C	CHD6_uc002xkb.1_Silent_p.C73C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1307					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCTCCAGGAAGCAAAGTGCTG	0.473		NA											19	42					0	0	0	0
SGK2	10110	broad.mit.edu	37	20	42195737	42195737	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:42195737G>A	uc002xkv.2	+	2	465	c.246G>A	c.(244-246)CTG>CTA	p.L82L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.L22L|SGK2_uc010ggm.2_Silent_p.L22L|SGK2_uc002xks.2_Silent_p.L22L|SGK2_uc002xku.2_Silent_p.L22L|SGK2_uc002xkq.1_Silent_p.L22L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	82					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACATCAACCTGGGGCCTTCAG	0.537		NA											9	21					0	0	0	0
EYA2	2139	broad.mit.edu	37	20	45633631	45633631	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:45633631A>T	uc002xsm.2	+	4	580	c.206A>T	c.(205-207)TAC>TTC	p.Y69F	EYA2_uc010ghp.2_Missense_Mutation_p.Y69F|EYA2_uc002xsn.2_Missense_Mutation_p.Y74F|EYA2_uc002xso.2_Missense_Mutation_p.Y69F|EYA2_uc002xsp.2_Missense_Mutation_p.Y69F|EYA2_uc002xsq.2_Missense_Mutation_p.Y69F	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	69					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ATGGCAGCCTACGGCCAGACG	0.587		NA											18	66					0	0	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:61594048C>T	uc002yea.3	+	5	754	c.570C>T	c.(568-570)TCC>TCT	p.S190S	SLC17A9_uc002ydz.3_Silent_p.S184S|SLC17A9_uc011aap.1_Silent_p.S210S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	190	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TCTATTTCTCCGGCGGCCTCA	0.637		NA											44	83					0	0	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737249	62737249	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:62737249G>A	uc011abt.1	-	1	936	c.936C>T	c.(934-936)AAC>AAT	p.N312N		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	312	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGGAAGGGGTTCAGGCACG	0.517		NA											18	39					0	0	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785298	37785298	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:37785298G>T	uc002yvj.2	+	12	1316	c.1178G>T	c.(1177-1179)AGA>ATA	p.R393I		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	393					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						TTGAACATGAGAACTCCTGAT	0.483		NA											15	35					2.49e-13	3.35e-13	1	0
BACE2	25825	broad.mit.edu	37	21	42647329	42647329	+	Silent	SNP	C	C	T	rs151128615		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:42647329C>T	uc002yyw.2	+	9	1798	c.1335C>T	c.(1333-1335)TCC>TCT	p.S445S	BACE2_uc002yyx.2_Silent_p.S395S|BACE2_uc002yyy.2_Missense_Mutation_p.P389L|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	445	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGAAATTTCCGGGCCTTTCT	0.517		NA											4	83					0	0	0	0
DIP2A	23181	broad.mit.edu	37	21	47985689	47985689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:47985689C>T	uc002zjo.2	+	36	4411	c.4228C>T	c.(4228-4230)CAT>TAT	p.H1410Y	DIP2A_uc011afz.1_Missense_Mutation_p.H1406Y|DIP2A_uc002zjs.2_Missense_Mutation_p.H90Y|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1410					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582		NA											10	54					0	0	0	0
XKR3	150165	broad.mit.edu	37	22	17280839	17280839	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:17280839G>A	uc002zlv.2	-	3	509	c.411C>T	c.(409-411)AGC>AGT	p.S137S	XKR3_uc011agf.1_Silent_p.S137S	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	137						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTTTGTGATGCTAACTTGAG	0.398		NA											34	115					0	0	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869807	22869807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:22869807C>T	uc002zwe.2	-	2	401	c.148G>A	c.(148-150)GGG>AGG	p.G50R	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAATCATCCCGACAAAGAGA	0.423		NA											4	77					0	0	0	0
CNTN6	27255	broad.mit.edu	37	3	1414594	1414594	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:1414594A>G	uc003boz.2	+	14	2008	c.1741A>G	c.(1741-1743)ACA>GCA	p.T581A	CNTN6_uc011asj.1_Missense_Mutation_p.T509A|CNTN6_uc003bpa.2_Missense_Mutation_p.T581A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	581	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CACAGTACAAACAACCCTAGA	0.368		NA											34	50					0	0	0	0
FANCD2	2177	broad.mit.edu	37	3	10083359	10083359	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:10083359T>A	uc003buw.2	+	10	826	c.748T>A	c.(748-750)TCA>ACA	p.S250T	FANCD2_uc003bux.1_Missense_Mutation_p.S250T|FANCD2_uc003buy.1_Missense_Mutation_p.S250T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	250	Interaction with FANCE.|Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGATGTCCTTTCAAGCCTCCG	0.428		NA	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				34	36					0	0	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:14154580G>A	uc003byj.3	-	3	431	c.236C>T	c.(235-237)ACG>ATG	p.T79M	CHCHD4_uc003byi.3_Missense_Mutation_p.T92M	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space					0						GATCTCCTCCGTGCTATAGTG	0.483		NA											22	17					0	0	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755899	49755899	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:49755899C>T	uc003cxj.2	-	1	1340	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	334	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCTGCCGTCGGCCAGCACC	0.667		NA											8	31					0	0	0	0
OR5K4	403278	broad.mit.edu	37	3	98073045	98073045	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:98073045G>T	uc011bgv.1	+	1	348	c.348G>T	c.(346-348)GCG>GCT	p.A116A		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TTCTTCTGGCGACAATGGCCT	0.458		NA											177	140					1.3e-97	1.91e-97	1	0
DPPA4	55211	broad.mit.edu	37	3	109050598	109050598	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:109050598C>A	uc003dxq.3	-	4	428	c.373G>T	c.(373-375)GCC>TCC	p.A125S	DPPA4_uc011bho.1_Missense_Mutation_p.A125S|DPPA4_uc011bhp.1_Missense_Mutation_p.A125S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	125						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTTGGGTAGGCAAAGGCACAC	0.403		NA											15	132					5.39e-06	6.25e-06	1	0
SEMA5B	54437	broad.mit.edu	37	3	122646688	122646688	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:122646688C>T	uc003efz.1	-	8	1103	c.799G>A	c.(799-801)GGC>AGC	p.G267S	SEMA5B_uc011bju.1_Missense_Mutation_p.G209S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.G267S|SEMA5B_uc010hro.1_Missense_Mutation_p.G209S|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	267	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCACTGCCCAGGCTGCGG	0.617		NA											51	45					0	0	0	0
MYLK	4638	broad.mit.edu	37	3	123451900	123451900	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:123451900G>T	uc003ego.2	-	11	1641	c.1359C>A	c.(1357-1359)CCC>CCA	p.P453P	MYLK_uc011bjw.1_Silent_p.P453P|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Silent_p.P453P|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Silent_p.P277P	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	453	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCTCCTCACGGGGGTGCCTT	0.572		NA											25	28					3.74e-20	5.27e-20	1	0
ITGB5	3693	broad.mit.edu	37	3	124538590	124538590	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:124538590T>C	uc003eho.2	-	7	1331	c.1034A>G	c.(1033-1035)TAC>TGC	p.Y345C	ITGB5_uc010hrx.2_5'Flank	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	345	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		GCATACCTTGTACAGCATATA	0.483		NA											21	95					0	0	0	0
RAB43	339122	broad.mit.edu	37	3	128849001	128849001	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:128849001T>C	uc003elo.1	-	11	992	c.781A>G	c.(781-783)ATG>GTG	p.M261V	ISY1_uc010hsz.1_Missense_Mutation_p.M81V|ISY1_uc003elp.1_Missense_Mutation_p.M261V|ISY1_uc010hta.1_Missense_Mutation_p.M283V	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1						AGGAGTTCCATTTTCTTCCTT	0.567		NA											26	104					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130327809	130327809	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130327809G>T	uc010htl.2	+	21	4783	c.4752_splice	c.e21+1	p.Q1584_splice	COL6A6_uc003eni.3_Splice_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGGCCCTCAGGTACATATCAA	0.463		NA											9	50					1.13e-05	1.29e-05	1	0
PRR23B	389151	broad.mit.edu	37	3	138739052	138739052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:138739052T>A	uc003esy.1	-	1	717	c.452A>T	c.(451-453)CAG>CTG	p.Q151L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	151										breast(1)	1						GGCCTCTTCCTGGGCGGCGAT	0.652		NA											19	110					0	0	0	0
SR140	23350	broad.mit.edu	37	3	142742816	142742816	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142742816G>A	uc003evh.1	+	13	1330	c.1231_splice	c.e13-1	p.T411_splice	SR140_uc003evi.1_Intron|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.T410_splice|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein						RNA processing	nucleus	nucleotide binding|RNA binding				0						TTCATATACAGACTCTGTCGC	0.303		NA											7	64					0	0	0	0
CHST2	9435	broad.mit.edu	37	3	142840860	142840860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142840860G>A	uc003evm.2	+	2	2091	c.1202G>A	c.(1201-1203)AGT>AAT	p.S401N		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	401	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ATCTGCAATAGTATGGCTAAG	0.652		NA											23	129					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	151082978	151082978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:151082978C>T	uc003eyp.2	+	20	3102	c.3064C>T	c.(3064-3066)CAT>TAT	p.H1022Y	MED12L_uc011bnz.1_Missense_Mutation_p.H882Y|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.H185Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1022					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTATGGGCCATCAGGATGC	0.463		NA											79	126					0	0	0	0
MECOM	2122	broad.mit.edu	37	3	169099256	169099256	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169099256C>A	uc011bpj.1	-	2	497	c.94G>T	c.(94-96)GCA>TCA	p.A32S	MECOM_uc003ffl.2_Missense_Mutation_p.A4S|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.A32S|MECOM_uc011bpl.1_Missense_Mutation_p.A32S	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						ACTCCATCTGCATCTGGCATT	0.428		NA											5	64					1.24e-05	1.41e-05	1	0
SAMD7	344658	broad.mit.edu	37	3	169639092	169639092	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169639092T>C	uc003fgd.2	+	4	444	c.177T>C	c.(175-177)AAT>AAC	p.N59N	SAMD7_uc003fge.2_Silent_p.N59N|SAMD7_uc011bpo.1_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	59										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAACACAAATATGGCAAATG	0.438		NA											29	124					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	27					0	0	0	0
KCNMB3	27094	broad.mit.edu	37	3	178984452	178984452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178984452C>A	uc003fjp.1	-	1	387	c.47G>T	c.(46-48)CGG>CTG	p.R16L	KCNMB3_uc011bqc.1_Missense_Mutation_p.R16L	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	Error:Variant_position_missing_in_Q9NPA1_after_alignment					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CTGGCGCCTCCGGCTGCCCTG	0.597		NA											24	31					2.89e-11	3.79e-11	1	0
EPHA5	2044	broad.mit.edu	37	4	66230769	66230769	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:66230769A>G	uc003hcy.2	-	12	2395	c.2202T>C	c.(2200-2202)CCT>CCC	p.P734P	EPHA5_uc003hcx.2_Silent_p.P666P|EPHA5_uc003hcz.2_Silent_p.P712P|EPHA5_uc011cah.1_Silent_p.P735P|EPHA5_uc011cai.1_Silent_p.P713P|EPHA5_uc003hda.2_Silent_p.P735P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	734	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGATGATGTTAGGATGATCAA	0.363		NA								TSP Lung(17;0.13)			34	45					0	0	0	0
PDHA2	5161	broad.mit.edu	37	4	96761669	96761669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:96761669A>G	uc003htr.3	+	1	431	c.368A>G	c.(367-369)TAT>TGT	p.Y123C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	123					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGTGTGTGCTATACTCGGGGA	0.522		NA											13	39					0	0	0	0
CENPE	1062	broad.mit.edu	37	4	104060953	104060953	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104060953A>T	uc003hxb.1	-	38	6287	c.6197T>A	c.(6196-6198)ATA>AAA	p.I2066K	CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2066	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CACTCTAGCTATCATTTCCCT	0.313		NA											25	29					0	0	0	0
CENPE	1062	broad.mit.edu	37	4	104079563	104079563	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104079563T>A	uc003hxb.1	-	24	3017	c.2927A>T	c.(2926-2928)CAT>CTT	p.H976L	CENPE_uc003hxc.1_Missense_Mutation_p.H951L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	976	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTCTTGATGTTGTTTCAG	0.284		NA											8	3					0	0	0	0
TACR3	6870	broad.mit.edu	37	4	104579544	104579544	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104579544C>T	uc003hxe.1	-	2	708	c.565G>A	c.(565-567)GAT>AAT	p.D189N		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	189	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCAAGGGATCAATAATAGCC	0.353		NA											6	23					0	0	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681049	109681049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:109681049G>T	uc003hzc.2	-	3	372	c.191C>A	c.(190-192)CCA>CAA	p.P64Q	AGXT2L1_uc010imc.2_Intron|AGXT2L1_uc011cfm.1_Missense_Mutation_p.P24Q|AGXT2L1_uc011cfn.1_5'UTR|AGXT2L1_uc011cfo.1_Missense_Mutation_p.P6Q	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	64					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		GACCACTCCTGGGTGACAGTG	0.383		NA											10	19					9.05e-12	1.2e-11	1	0
PRDM5	11107	broad.mit.edu	37	4	121631548	121631548	+	Silent	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:121631548T>A	uc003idn.2	-	15	1894	c.1644A>T	c.(1642-1644)TCA>TCT	p.S548S	PRDM5_uc003ido.2_Silent_p.S517S|PRDM5_uc010ine.2_Nonsense_Mutation_p.R489*	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	548	C2H2-type 14.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						TGCTGCACTCTGAGCACTTGT	0.458		NA											9	21					0	0	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107289	123107289	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:123107289G>T	uc003ieh.2	+	5	502	c.457G>T	c.(457-459)GGT>TGT	p.G153C	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	153					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGAGTTGTTTGGTTTGGAGCC	0.378		NA											16	26					3.41e-10	4.41e-10	1	0
SPOCK3	50859	broad.mit.edu	37	4	167656083	167656083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:167656083C>T	uc003iri.1	-	12	1441	c.1300G>A	c.(1300-1302)GTA>ATA	p.V434I	SPOCK3_uc011cjp.1_Missense_Mutation_p.V391I|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443I|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314I|SPOCK3_uc003irj.1_Missense_Mutation_p.V431I|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383I|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342I|SPOCK3_uc011cju.1_Missense_Mutation_p.V327I|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336I	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaatgtatacatcatggtca	0.08		NA											20	23					0	0	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017675	170017675	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:170017675T>C	uc003isa.1	-	12	2997	c.2662A>G	c.(2662-2664)ATA>GTA	p.I888V		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	888	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCTCCTCATATGTTTTCCACA	0.403		NA											31	47					0	0	0	0
EXOC3	11336	broad.mit.edu	37	5	466943	466943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:466943G>A	uc003jba.2	+	13	2296	c.2168G>A	c.(2167-2169)AGC>AAC	p.S723N	uc003jbb.1_5'Flank	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	734					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCACAGGCCAGCCCCAGCTAC	0.662		NA											4	17					0	0	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154604	9154604	+	Missense_Mutation	SNP	G	G	A	rs149803731		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:9154604G>A	uc003jek.2	-	12	2189	c.1477C>T	c.(1477-1479)CGC>TGC	p.R493C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	493	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCCTACCTGCGTGTGCGGTAG	0.617		NA											19	39					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11346593	11346593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:11346593G>A	uc003jfa.1	-	9	1664	c.1519C>T	c.(1519-1521)CAG>TAG	p.Q507*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Q416*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q170*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q74*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q74*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	507					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGACAATACTGCAGCTGTCGG	0.627		NA											23	86					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13721172	13721172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13721172A>T	uc003jfd.2	-	71	12258	c.12216T>A	c.(12214-12216)TAT>TAA	p.Y4072*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.Y240*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4072	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCATGGACACATAACGGGTTT	0.517		NA							Kartagener_syndrome				25	62					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13845071	13845071	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13845071G>T	uc003jfd.2	-	32	5188	c.5146C>A	c.(5146-5148)CGG>AGG	p.R1716R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1716	Stem (By similarity).		R -> L (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443		NA							Kartagener_syndrome				17	50					1.68e-08	2.08e-08	1	0
PRDM9	56979	broad.mit.edu	37	5	23510090	23510090	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:23510090G>T	uc003jgo.2	+	4	437	c.255G>T	c.(253-255)GTG>GTT	p.V85V		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	85	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AACTCCAGGTGGATGACACAG	0.398		NA								HNSCC(3;0.000094)			15	35					0.000566183	0.000612955	1	0
CARD6	84674	broad.mit.edu	37	5	40853726	40853726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:40853726G>A	uc003jmg.2	+	3	2367	c.2292G>A	c.(2290-2292)AAG>AAA	p.K764K		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	764					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						AGAGGCCTAAGTGGTTCCATC	0.488		NA											60	128					0	0	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067895	60067895	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:60067895G>A	uc003jsi.3	-	4	290	c.90C>T	c.(88-90)CTC>CTT	p.L30L	ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.L30L|ELOVL7_uc003jsj.3_Silent_p.L17L	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	30	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCGAGGACATGAGGAGCCAAT	0.438		NA											6	24					0	0	0	0
CHD1	1105	broad.mit.edu	37	5	98193970	98193970	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:98193970T>A	uc003knf.2	-	34	4849	c.4701A>T	c.(4699-4701)AAA>AAT	p.K1567N	CHD1_uc010jbn.2_Missense_Mutation_p.K293N	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1567					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTTTTTTTGTAAGAAT	0.403		NA											60	76					0	0	0	0
DMXL1	1657	broad.mit.edu	37	5	118500343	118500343	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:118500343C>T	uc003ksd.2	+	20	5025	c.4844C>T	c.(4843-4845)ACC>ATC	p.T1615I	DMXL1_uc010jcl.1_Missense_Mutation_p.T1615I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1615										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCGGAATACCCGCATCTTA	0.403		NA											25	36					0	0	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554405	140554405	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140554405G>T	uc003lit.2	+	1	2163	c.1989G>T	c.(1987-1989)GTG>GTT	p.V663V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	663	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGGTGGACGGCTTCT	0.697		NA											13	45					9.17e-09	1.14e-08	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140719024A>T	uc003ljk.1	+	1	671	c.486A>T	c.(484-486)GTA>GTT	p.V162V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.V162V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	162	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522		NA											30	33					0	0	0	0
TCERG1	10915	broad.mit.edu	37	5	145850238	145850238	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:145850238C>T	uc003lob.2	+	8	1479	c.1439C>T	c.(1438-1440)CCC>CTC	p.P480L	TCERG1_uc003loc.2_Missense_Mutation_p.P459L|TCERG1_uc011dbt.1_Missense_Mutation_p.P459L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	480	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTAAAGAACCCTCTGAAGAG	0.388		NA											13	24					0	0	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497184	149497184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149497184G>T	uc003lro.2	-	22	3603	c.3134C>A	c.(3133-3135)GCC>GAC	p.A1045D	PDGFRB_uc010jhd.2_Missense_Mutation_p.A884D	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	1045	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTACCTGGCTAGGCTGGG	0.542		NA	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								21	20					2.22e-12	2.96e-12	1	0
ARSI	340075	broad.mit.edu	37	5	149677228	149677228	+	Missense_Mutation	SNP	C	C	T	rs147847092		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149677228C>T	uc003lrv.2	-	2	1848	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	420						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACCCACGCGGATGGCAGC	0.622		NA											15	45					0	0	0	0
IL17F	112744	broad.mit.edu	37	6	52101905	52101905	+	Missense_Mutation	SNP	C	C	A	rs146083682		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:52101905C>A	uc003pam.1	-	3	387	c.316G>T	c.(316-318)GGC>TGC	p.G106C	IL17F_uc003pal.1_Missense_Mutation_p.G52C	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	106					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)					TTGATGCAGCCCAAGTTCCTA	0.557		NA											8	18					0.000274275	0.000297796	1	0
IMPG1	3617	broad.mit.edu	37	6	76660760	76660760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:76660760G>A	uc003pik.1	-	13	1473	c.1343C>T	c.(1342-1344)CCA>CTA	p.P448L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	448					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGAAAGGTGGAGCTTCTGA	0.473		NA											14	49					0	0	0	0
C6orf165	154313	broad.mit.edu	37	6	88125575	88125575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:88125575C>G	uc003plv.2	+	5	547	c.455C>G	c.(454-456)ACT>AGT	p.T152S	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T152S	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	152										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATCAAGACTGTCAGAGAG	0.363		NA											7	53					0	0	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340371	90340371	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:90340371G>T	uc003pni.3	+	16	2173	c.1832G>T	c.(1831-1833)GGG>GTG	p.G611V	ANKRD6_uc003pne.3_Missense_Mutation_p.G606V|ANKRD6_uc003pnf.3_Missense_Mutation_p.G576V|ANKRD6_uc011dzy.1_Missense_Mutation_p.G611V|ANKRD6_uc010kcd.2_Missense_Mutation_p.G547V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.G207V|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.G207V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	611							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAGGCTGGGCCCTGCGTC	0.582		NA											6	10					0.00116845	0.00124512	1	0
GPR63	81491	broad.mit.edu	37	6	97246721	97246721	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:97246721A>T	uc010kcl.2	-	3	1365	c.887T>A	c.(886-888)CTG>CAG	p.L296Q	GPR63_uc003pou.2_Missense_Mutation_p.L296Q	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	296	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGTCTCTGCAGACTCATGAG	0.498		NA											18	56					0	0	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802666	109802666	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:109802666C>G	uc003ptl.1	-	2	732	c.564G>C	c.(562-564)GTG>GTC	p.V188V	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.V188V|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Silent_p.V188V	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGAATTGTTCACTCTTAACT	0.413		NA											65	187					0	0	0	0
TUBE1	51175	broad.mit.edu	37	6	112397183	112397183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:112397183C>G	uc003pvq.2	-	8	883	c.769G>C	c.(769-771)GCA>CCA	p.A257P	TUBE1_uc003pvr.2_Missense_Mutation_p.A182P	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	257					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTATTCATTGCATCAAAGGGC	0.383		NA											59	89					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117248568	117248568	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:117248568C>T	uc003pxm.2	+	17	2327	c.2264C>T	c.(2263-2265)TCT>TTT	p.S755F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	755					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CGGCCACCGTCTAGCTATGGC	0.517		NA											14	36					0	0	0	0
EYA4	2070	broad.mit.edu	37	6	133846378	133846378	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133846378C>A	uc003qec.3	+	19	2283	c.1825C>A	c.(1825-1827)CAG>AAG	p.Q609K	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Missense_Mutation_p.Q586K|EYA4_uc011ecs.1_Missense_Mutation_p.Q615K|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	609					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAAGAAGAACAGGCAGCAAA	0.393		NA											18	34					4.35e-09	5.48e-09	1	0
SASH1	23328	broad.mit.edu	37	6	148869664	148869664	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:148869664C>T	uc003qme.1	+	20	4189	c.3714C>T	c.(3712-3714)TTC>TTT	p.F1238F	SASH1_uc003qmf.1_Silent_p.F648F	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1238	SAM 2.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGACTCTTCAAACTGCCGC	0.557		NA											26	79					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152658020	152658020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:152658020C>T	uc010kiw.2	-	76	13086	c.12484G>A	c.(12484-12486)GAG>AAG	p.E4162K	SYNE1_uc003qot.3_Missense_Mutation_p.E4091K|SYNE1_uc003qou.3_Missense_Mutation_p.E4162K|SYNE1_uc010kja.1_Missense_Mutation_p.E867K|SYNE1_uc010kiz.2_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4162	Spectrin 11.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGCTCAGAGTGCCTC	0.473		NA								HNSCC(10;0.0054)			22	104					0	0	0	0
SLC22A1	6580	broad.mit.edu	37	6	160543205	160543205	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:160543205G>T	uc003qtc.2	+	1	343	c.238G>T	c.(238-240)GCG>TCG	p.A80S	SLC22A1_uc003qtd.2_Missense_Mutation_p.A80S	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	80	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTGGGGCCCGCGGGCGAGGC	0.662		NA											24	83					2.22e-12	2.96e-12	1	0
PARK2	5071	broad.mit.edu	37	6	162683677	162683677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683677C>A	uc003qtx.3	-	3	426	c.292G>T	c.(292-294)GAG>TAG	p.E98*	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Nonsense_Mutation_p.E98*|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Nonsense_Mutation_p.E98*	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	98					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGGGGCTCCCGCTCACAG	0.587		NA											17	45					0.00074312	0.000795288	1	0
PARK2	5071	broad.mit.edu	37	6	162683729	162683729	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683729C>A	uc003qtx.3	-	3	374	c.240G>T	c.(238-240)ATG>ATT	p.M80I	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.M80I|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.M80I	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	80					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGTTGCATTCATTTCTTGAC	0.527		NA											12	39					4.37e-10	5.64e-10	1	0
MLLT4	4301	broad.mit.edu	37	6	168347424	168347424	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:168347424G>C	uc003qwd.2	+	26	3514	c.3372G>C	c.(3370-3372)AAG>AAC	p.K1124N	MLLT4_uc003qwb.1_Missense_Mutation_p.K1109N|MLLT4_uc003qwc.1_Missense_Mutation_p.K1125N|MLLT4_uc003qwg.1_Missense_Mutation_p.K434N	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1125					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCGACCAAAGAGTGAAGGCT	0.403		NA	T	MLL	AL								26	52					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11676343	11676343	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:11676343A>T	uc003ssf.3	-	2	688	c.436T>A	c.(436-438)TGC>AGC	p.C146S		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	146	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTAATGCACTCAAGAGGT	0.473		NA								HNSCC(18;0.044)			15	44					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18687533	18687533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:18687533G>C	uc003suh.2	+	9	1193	c.1152G>C	c.(1150-1152)GAG>GAC	p.E384D	HDAC9_uc003sue.2_Missense_Mutation_p.E384D|HDAC9_uc011jyd.1_Missense_Mutation_p.E384D|HDAC9_uc003sui.2_Missense_Mutation_p.E387D|HDAC9_uc003suj.2_Missense_Mutation_p.E343D|HDAC9_uc011jya.1_Missense_Mutation_p.E381D|HDAC9_uc003sua.1_Missense_Mutation_p.E362D|HDAC9_uc011jyb.1_Missense_Mutation_p.E340D|HDAC9_uc003sud.1_Missense_Mutation_p.E384D|HDAC9_uc011jyc.1_Missense_Mutation_p.E343D|HDAC9_uc003suf.1_Missense_Mutation_p.E415D|HDAC9_uc010kud.1_Missense_Mutation_p.E387D|HDAC9_uc011jye.1_Missense_Mutation_p.E356D|HDAC9_uc011jyf.1_Missense_Mutation_p.E307D|HDAC9_uc010kue.1_Missense_Mutation_p.E127D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	384					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTTTAGAGGGAAAGCCAC	0.498		NA											6	7					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33217197	33217197	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:33217197G>T	uc003tdn.1	+	5	949	c.436G>T	c.(436-438)GTA>TTA	p.V146L	BBS9_uc003tdo.1_Missense_Mutation_p.V146L|BBS9_uc003tdp.1_Missense_Mutation_p.V146L|BBS9_uc003tdq.1_Missense_Mutation_p.V146L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V146L|BBS9_uc011kao.1_Missense_Mutation_p.V24L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	146					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)			ATTTGGTGGTGTAAAAGGTAA	0.353		NA							Bardet-Biedl_syndrome				28	53					6.07e-21	8.61e-21	1	0
ELMO1	9844	broad.mit.edu	37	7	36934481	36934481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:36934481C>T	uc003tfk.1	-	17	1886	c.1579G>A	c.(1579-1581)GAT>AAT	p.D527N	ELMO1_uc003tfi.1_Missense_Mutation_p.D47N|ELMO1_uc003tfj.1_Missense_Mutation_p.D47N|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.D431N|ELMO1_uc010kxg.1_Missense_Mutation_p.D527N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	527					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GACTGGAAATCTTCCTGGTTC	0.478		NA											16	50					0	0	0	0
POLM	27434	broad.mit.edu	37	7	44119312	44119312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44119312G>A	uc003tjt.2	-	4	592	c.500C>T	c.(499-501)GCA>GTA	p.A167V	POLM_uc003tju.2_Missense_Mutation_p.A167V|POLM_uc003tjx.2_Missense_Mutation_p.A167V|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.A167V|POLM_uc011kbu.1_Missense_Mutation_p.A134V|POLM_uc010kxy.2_Missense_Mutation_p.A167V	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	167					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						TTCAAAGCCTGCTGCCTCGGC	0.652		NA						DNA_polymerases_(catalytic_subunits)					19	41					0	0	0	0
OGDH	4967	broad.mit.edu	37	7	44733439	44733439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44733439G>T	uc003tln.2	+	11	1460	c.1351G>T	c.(1351-1353)GAC>TAC	p.D451Y	OGDH_uc011kbx.1_Missense_Mutation_p.D447Y|OGDH_uc011kby.1_Missense_Mutation_p.D301Y|OGDH_uc003tlp.2_Missense_Mutation_p.D462Y|OGDH_uc011kbz.1_Missense_Mutation_p.D246Y|OGDH_uc003tlo.1_Missense_Mutation_p.D284Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	451					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CTTCACCACCGACCCTCGGAT	0.647		NA											8	12					3.1e-07	3.72e-07	1	0
ABCA13	154664	broad.mit.edu	37	7	48314857	48314857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:48314857C>G	uc003toq.2	+	17	5619	c.5594C>G	c.(5593-5595)TCT>TGT	p.S1865C	ABCA13_uc010kyr.2_Missense_Mutation_p.S1368C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1865					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTCCACCTGTCTCCCCAAGGT	0.423		NA											28	24					0	0	0	0
MAGI2	9863	broad.mit.edu	37	7	79082487	79082487	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:79082487G>T	uc003ugx.2	-	1	404	c.150C>A	c.(148-150)GGC>GGA	p.G50G	MAGI2_uc003ugy.2_Silent_p.G50G|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	50	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCCACCTTGCCGGGCTTCA	0.642		NA											31	77					4.75e-14	6.43e-14	1	0
CACNA2D1	781	broad.mit.edu	37	7	81693654	81693654	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:81693654C>A	uc003uhr.1	-	9	1001	c.745G>T	c.(745-747)GCA>TCA	p.A249S		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	249	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAGGAGATGCAGCTCCTTGG	0.313		NA											9	28					1.77e-08	2.19e-08	1	0
PCLO	27445	broad.mit.edu	37	7	82585441	82585441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:82585441G>A	uc003uhx.2	-	5	5117	c.4828C>T	c.(4828-4830)CGA>TGA	p.R1610*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R1610*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1541					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CGAGTCAGTCGTCTGTGTTTC	0.428		NA											34	224					0	0	0	0
PEX1	5189	broad.mit.edu	37	7	92147348	92147348	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:92147348T>C	uc003uly.2	-	5	577	c.481A>G	c.(481-483)ATA>GTA	p.I161V	PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.I161V|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	161					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAGCTGGTATTAGTGCAACT	0.393		NA											14	33					0	0	0	0
PEG10	23089	broad.mit.edu	37	7	94293079	94293079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:94293079C>G	uc011kie.1	+	2	656	c.439C>G	c.(439-441)CCC>GCC	p.P147A		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	71					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTGCCCCACCCCCTCCAAT	0.582		NA											7	13					0	0	0	0
SHFM1	7979	broad.mit.edu	37	7	96303092	96303092	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:96303092T>A	uc010lfn.1	-	3	378	c.250A>T	c.(250-252)AGT>TGT	p.S84C		NM_006304	NP_006295	P60896	DSS1_HUMAN	split hand/foot malformation type 1	Error:Variant_position_missing_in_P60896_after_alignment					proteolysis	proteasome complex	peptidase activity|protein binding				0	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AGGAAAGCACTGCACATTCTT	0.453		NA						Direct_reversal_of_damage|Homologous_recombination					12	31					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100345803	100345803	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:100345803T>A	uc003uwj.2	+	10	1232	c.1067T>A	c.(1066-1068)GTG>GAG	p.V356E	ZAN_uc003uwk.2_Missense_Mutation_p.V356E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	356	MAM 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCAGCTGTGGCAGTTGAT	0.622		NA											14	37					0	0	0	0
LAMB1	3912	broad.mit.edu	37	7	107638890	107638890	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:107638890C>T	uc003vew.2	-	4	596	c.261G>A	c.(259-261)GAG>GAA	p.E87E	LAMB1_uc003vev.2_Silent_p.E111E|LAMB1_uc003vex.2_Silent_p.E87E|LAMB1_uc010ljn.1_Silent_p.E173E	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	87	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCAGGGTCTCATGATAAG	0.388		NA											33	77					0	0	0	0
ASZ1	136991	broad.mit.edu	37	7	117024803	117024803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:117024803C>A	uc003vjb.2	-	6	727	c.664G>T	c.(664-666)GCA>TCA	p.A222S	ASZ1_uc011kno.1_Missense_Mutation_p.A222S|ASZ1_uc011knp.1_Missense_Mutation_p.A14S	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	222	ANK 6.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTTCTTTTTGCAATCTCACTT	0.333		NA											28	70					2.08e-15	2.85e-15	1	0
UBN2	254048	broad.mit.edu	37	7	138946205	138946205	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946205C>T	uc011kqr.1	+	6	1113	c.1113C>T	c.(1111-1113)GAC>GAT	p.D371D	UBN2_uc003vuv.2_Silent_p.D94D	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	371										ovary(1)|skin(1)	2						ACGTCCCGGACTTAAATCTGA	0.483		NA											25	67					0	0	0	0
UBN2	254048	broad.mit.edu	37	7	138946371	138946371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946371G>C	uc011kqr.1	+	6	1279	c.1279G>C	c.(1279-1281)GAA>CAA	p.E427Q	UBN2_uc003vuv.2_Missense_Mutation_p.E150Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	427										ovary(1)|skin(1)	2						GTCGGGGGGTGAAAATGGAAC	0.483		NA											12	70					0	0	0	0
FAM115C	285966	broad.mit.edu	37	7	143417115	143417115	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:143417115C>T	uc003wdf.2	+	3	1046	c.963C>T	c.(961-963)TGC>TGT	p.C321C	FAM115C_uc003wdg.2_Silent_p.C40C|FAM115C_uc011ktk.1_Silent_p.C321C|FAM115C_uc003wdh.2_Silent_p.C321C|FAM115C_uc011ktm.1_Silent_p.C321C|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Silent_p.C157C|FAM115C_uc003wdi.1_Silent_p.C40C	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	321											0						GCCTGCAATGCAGCCTGGAGC	0.562		NA											15	69					0	0	0	0
KRBA1	84626	broad.mit.edu	37	7	149426299	149426299	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:149426299G>A	uc003wfz.2	+	13	2047	c.1648G>A	c.(1648-1650)GAG>AAG	p.E550K	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	550										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCCTGCGAGTCAGCCGT	0.632		NA											4	25					0	0	0	0
SHH	6469	broad.mit.edu	37	7	155596377	155596377	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:155596377C>T	uc003wmk.1	-	3	757	c.606G>A	c.(604-606)TCG>TCA	p.S202S	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Silent_p.S115S	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	202					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCGTGGCCGAGCCCGGGA	0.677		NA											5	18					0	0	0	0
MTMR7	9108	broad.mit.edu	37	8	17159737	17159737	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:17159737A>T	uc003wxm.2	-	13	1785	c.1546T>A	c.(1546-1548)TCA>ACA	p.S516T	MTMR7_uc003wxn.2_Missense_Mutation_p.S295T|MTMR7_uc011kya.1_Missense_Mutation_p.S150T|MTMR7_uc011kyb.1_Missense_Mutation_p.S107T	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	516							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		TCTGTAACTGACTGTCGGGGC	0.453		NA											43	97					0	0	0	0
HR	55806	broad.mit.edu	37	8	21973246	21973246	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:21973246C>T	uc003xas.2	-	19	4202	c.3537G>A	c.(3535-3537)AAG>AAA	p.K1179K	HR_uc003xat.2_Silent_p.K1124K	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1179							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCACGGCCACCTTCACTGCTT	0.562		NA											7	30					0	0	0	0
ADAM28	10863	broad.mit.edu	37	8	24168892	24168892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:24168892G>T	uc003xdy.2	+	5	408	c.325G>T	c.(325-327)GGA>TGA	p.G109*	ADAM28_uc003xdx.2_Nonsense_Mutation_p.G109*|ADAM28_uc011kzz.1_Translation_Start_Site|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	109					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATTATCAAGGACATATTCT	0.388		NA											9	30					0.000274275	0.000297796	1	0
PNMA2	10687	broad.mit.edu	37	8	26365761	26365761	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26365761T>G	uc003xez.2	-	3	1281	c.511A>C	c.(511-513)AGT>CGT	p.S171R		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	171					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggacagcactccctgagaat	0		NA											15	75					0	0	0	0
ADRA1A	148	broad.mit.edu	37	8	26721956	26721956	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26721956C>T	uc003xfh.1	-	1	967	c.531G>A	c.(529-531)CAG>CAA	p.Q177Q	ADRA1A_uc003xfc.1_Silent_p.Q177Q|ADRA1A_uc010lul.1_Silent_p.Q177Q|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.Q177Q|ADRA1A_uc010lum.1_Silent_p.Q177Q|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.Q177Q	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	177	Extracellular (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCTCGTTGATCTGGCAGATGG	0.627		NA											8	27					0	0	0	0
UNC5D	137970	broad.mit.edu	37	8	35579781	35579781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:35579781G>T	uc003xjr.1	+	9	1499	c.1171G>T	c.(1171-1173)GTG>TTG	p.V391L	UNC5D_uc003xjs.1_Missense_Mutation_p.V386L|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.V149L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	391	Helical; (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTGCCGTCGTGGCCGTTGC	0.522		NA											57	136					3.89e-19	5.46e-19	1	0
SNTG1	54212	broad.mit.edu	37	8	51571220	51571220	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:51571220C>A	uc010lxy.1	+	16	1406	c.1035C>A	c.(1033-1035)CTC>CTA	p.L345L	SNTG1_uc003xqs.1_Silent_p.L345L|SNTG1_uc010lxz.1_Silent_p.L345L|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	345	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGATCCTCAAGGTATGAT	0.373		NA											7	40					1.07e-07	1.31e-07	1	0
KCNB2	9312	broad.mit.edu	37	8	73848928	73848928	+	Silent	SNP	C	C	T	rs141965461		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:73848928C>T	uc003xzb.2	+	3	1926	c.1338C>T	c.(1336-1338)AAC>AAT	p.N446N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	446	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CCAAAAGGAACGGAAGCATCG	0.453		NA											36	82					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886082	88886082	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:88886082C>A	uc003ydz.2	-	1	215	c.118G>T	c.(118-120)GCC>TCC	p.A40S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	40										ovary(1)	1						CAATAGTTGGCGAATCTGAGG	0.522		NA											29	45					2.14e-07	2.6e-07	1	0
OSR2	116039	broad.mit.edu	37	8	99961349	99961349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:99961349G>T	uc003yir.2	+	2	704	c.169G>T	c.(169-171)GGG>TGG	p.G57W	OSR2_uc010mbn.2_Missense_Mutation_p.G57W|OSR2_uc003yiq.2_Missense_Mutation_p.G57W|OSR2_uc011lgx.1_Missense_Mutation_p.G178W	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	57					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CTGGACGCTGGGGTATCCCAA	0.667		NA											20	58					1.02e-10	1.33e-10	1	0
KCNV1	27012	broad.mit.edu	37	8	110980809	110980809	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:110980809C>A	uc003ynr.3	-	3	1353	c.1011G>T	c.(1009-1011)ATG>ATT	p.M337I	KCNV1_uc010mcw.2_Missense_Mutation_p.M337I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	337	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGTGATTGTCATCCCAAGGG	0.338		NA											16	37					3.33e-07	3.99e-07	1	0
CSMD3	114788	broad.mit.edu	37	8	113318352	113318352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:113318352G>T	uc003ynu.2	-	51	8114	c.7955C>A	c.(7954-7956)ACG>AAG	p.T2652K	CSMD3_uc003yns.2_Missense_Mutation_p.T1854K|CSMD3_uc003ynt.2_Missense_Mutation_p.T2612K|CSMD3_uc011lhx.1_Missense_Mutation_p.T2548K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2652	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTAACTCGCGTTCCTACCAA	0.383		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	70					4.35e-09	5.48e-09	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971137	21971137	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:21971137T>A	uc003zpk.2	-	2	433	c.221A>T	c.(220-222)GAC>GTC	p.D74V	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R129R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.D74Y(5)|p.D74V(2)|p.D74N(2)|p.D74D(2)|p.L65fs*38(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.D74E(1)|p.C72fs*71(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTT	0.711		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	5					0	0	0	0
NPR2	4882	broad.mit.edu	37	9	35794092	35794092	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:35794092G>T	uc003zyd.2	+	2	865	c.865G>T	c.(865-867)GCC>TCC	p.A289S	NPR2_uc010mlb.2_Missense_Mutation_p.A289S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	289	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	cctcagagaggcctttcaggt	0.388		NA											12	11					2.81e-09	3.55e-09	1	0
TRPM6	140803	broad.mit.edu	37	9	77411725	77411725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:77411725G>A	uc004ajl.1	-	18	2561	c.2323C>T	c.(2323-2325)CAG>TAG	p.Q775*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q770*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.Q153*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	775	Extracellular (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGGAAGTCCTGGGACTGGGGA	0.368		NA											22	122					0	0	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96209968	96209968	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:96209968G>A	uc004atu.3	-	3	1579	c.696C>T	c.(694-696)AGC>AGT	p.S232S	FAM120AOS_uc004atm.2_Intron|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA	NM_198841	NP_942138	Q5T036	F120S_HUMAN	hypothetical protein LOC158293	232											0						TGACAGAACAGCTTCTGGAAA	0.333		NA											14	99					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120470933	120470933	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120470933C>T	uc004bjz.2	+	2	477	c.186C>T	c.(184-186)AGC>AGT	p.S62S	TLR4_uc004bka.2_Silent_p.S22S|TLR4_uc004bkb.2_Intron	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	62	LRR 1.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TGGACCTGAGCTTTAATCCCC	0.443		NA											16	121					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120474751	120474751	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120474751G>T	uc004bjz.2	+	3	636	c.345G>T	c.(343-345)CAG>CAT	p.Q115H	TLR4_uc004bka.2_Missense_Mutation_p.Q75H|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	115	LRR 3.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						ACCCCATCCAGAGTTTAGCCC	0.453		NA											40	33					1.97e-18	2.74e-18	1	0
DBC1	1620	broad.mit.edu	37	9	122004443	122004443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:122004443G>T	uc004bkc.2	-	4	917	c.461C>A	c.(460-462)TCA>TAA	p.S154*	DBC1_uc004bkd.2_Nonsense_Mutation_p.S154*	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	154	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GGCATTCCCTGACTTCCTGTC	0.478		NA											38	18					6.2e-25	8.92e-25	1	0
FNBP1	23048	broad.mit.edu	37	9	132658199	132658199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:132658199C>T	uc004byw.1	-	16	1983	c.1764G>A	c.(1762-1764)TGG>TGA	p.W588*	FNBP1_uc011mbv.1_Nonsense_Mutation_p.W578*|FNBP1_uc011mbw.1_Nonsense_Mutation_p.W583*|FNBP1_uc004bza.2_Nonsense_Mutation_p.W522*|FNBP1_uc004byz.1_Nonsense_Mutation_p.W559*|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Nonsense_Mutation_p.W216*|FNBP1_uc004byx.1_Nonsense_Mutation_p.W504*|FNBP1_uc004byy.1_Nonsense_Mutation_p.W494*	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	588	Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GAATGCGGGTCCAGCCATCGC	0.413		NA	T	MLL	AML								27	32					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3235195	3235195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:3235195G>T	uc004crg.3	-	6	6684	c.6527C>A	c.(6526-6528)CCG>CAG	p.P2176Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2176	Ig-like C2-type 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGATGCGCGGCCAGGGGTC	0.677		NA											5	7					8.13e-05	9e-05	1	0
GPR143	4935	broad.mit.edu	37	X	9707605	9707605	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:9707605G>T	uc004cst.1	-	8	1100	c.1100C>A	c.(1099-1101)CCC>CAC	p.P367H		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	347	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				GTTTTCATGGGGCATCAGTGG	0.582		NA											9	18					0.000673444	0.000721754	1	0
HCCS	3052	broad.mit.edu	37	X	11139818	11139818	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:11139818G>T	uc004cuk.2	+	7	961	c.695G>T	c.(694-696)GGT>GTT	p.G232V	HCCS_uc004cuj.2_Missense_Mutation_p.G232V|HCCS_uc004cul.1_Missense_Mutation_p.G232V	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	232					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						TATGATGGTGGTGAAGTCAAC	0.448		NA											30	90					1.14e-28	1.65e-28	1	0
PIR	8544	broad.mit.edu	37	X	15497928	15497928	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:15497928G>T	uc004cwu.2	-	3	351	c.113C>A	c.(112-114)CCG>CAG	p.P38Q	PIR_uc004cwv.2_Missense_Mutation_p.P38Q|BMX_uc004cww.2_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	pirin	38					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			ovary(1)	1	Hepatocellular(33;0.183)					CAGTAAAAACGGATCCAGATT	0.343		NA											9	35					7.48e-07	8.87e-07	1	0
BEND2	139105	broad.mit.edu	37	X	18220019	18220019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18220019C>T	uc004cyj.3	-	6	1103	c.949G>A	c.(949-951)GAG>AAG	p.E317K	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	317										ovary(3)|kidney(1)|central_nervous_system(1)	5						TTCGCTGTCTCAGTGCTGTTT	0.289		NA											31	86					0	0	0	0
PHKA2	5256	broad.mit.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18911701C>A	uc004cyv.3	-	33	4040	c.3610G>T	c.(3610-3612)GCT>TCT	p.A1204S	uc004cyt.2_Intron|PHKA2_uc004cyu.3_Missense_Mutation_p.A510S	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522		NA											59	164					3.4e-24	4.88e-24	1	0
KLHL34	257240	broad.mit.edu	37	X	21674708	21674708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21674708G>T	uc004czz.1	-	1	1741	c.1199C>A	c.(1198-1200)CCG>CAG	p.P400Q		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	400	Kelch 2.									ovary(1)	1						GTGGAAGCGCGGGTCGTAACG	0.706		NA											5	14					0.000602214	0.000647272	1	0
KLHL34	257240	broad.mit.edu	37	X	21675186	21675186	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21675186C>A	uc004czz.1	-	1	1263	c.721G>T	c.(721-723)GGC>TGC	p.G241C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	241										ovary(1)	1						AGCACGAGGCCAGAGCCCGAG	0.677		NA											9	25					9.7e-10	1.24e-09	1	0
SMS	6611	broad.mit.edu	37	X	21995233	21995233	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21995233C>A	uc004dag.2	+	5	485	c.384C>A	c.(382-384)GAC>GAA	p.D128E	SMS_uc011mjq.1_Missense_Mutation_p.D32E|SMS_uc004daf.1_Missense_Mutation_p.D75E|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	128					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	CCACCGCCGACGGGCGCCTGG	0.428		NA											27	60					7.42e-09	9.28e-09	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254265	30254265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:30254265T>C	uc004dca.1	+	5	961	c.224T>C	c.(223-225)GTA>GCA	p.V75A		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75											0						ACTACATCTGTAGATGTTTCT	0.458		NA											12	20					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31165577	31165577	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:31165577G>T	uc004dda.1	-	75	10856	c.10612C>A	c.(10612-10614)CCA>ACA	p.P3538T	DMD_uc004dcq.1_Missense_Mutation_p.P809T|DMD_uc004dcr.1_Missense_Mutation_p.P958T|DMD_uc004dcs.1_Missense_Mutation_p.P968T|DMD_uc004dct.1_Missense_Mutation_p.P1078T|DMD_uc004dcu.1_Missense_Mutation_p.P1078T|DMD_uc004dcv.1_Missense_Mutation_p.P1065T|DMD_uc004dcw.2_Missense_Mutation_p.P2194T|DMD_uc004dcx.2_Missense_Mutation_p.P2197T|DMD_uc004dcz.2_Missense_Mutation_p.P3415T|DMD_uc004dcy.1_Missense_Mutation_p.P3534T|DMD_uc004ddb.1_Missense_Mutation_p.P3530T|DMD_uc004dcm.1_Missense_Mutation_p.P470T|DMD_uc004dcn.1_Missense_Mutation_p.P457T|DMD_uc004dco.1_Missense_Mutation_p.P470T|DMD_uc004dcp.1_Missense_Mutation_p.P457T|DMD_uc011mkb.1_Missense_Mutation_p.P360T	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACGGCAGTGGGGACAGGCCT	0.473		NA											11	28					4.69e-08	5.77e-08	1	0
NDP	4693	broad.mit.edu	37	X	43817843	43817843	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:43817843C>T	uc004dga.3	-	2	628	c.49G>A	c.(49-51)GTG>ATG	p.V17M		NM_000266	NP_000257	Q00604	NDP_HUMAN	norrin precursor	17					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity				0						CCCATTATCACCAGCAGGGAG	0.458		NA											18	24					0	0	0	0
FAM123B	139285	broad.mit.edu	37	X	63412151	63412151	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:63412151C>A	uc004dvo.2	-	2	1289	c.1016G>T	c.(1015-1017)AGT>ATT	p.S339I		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	339					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GTCTGTCATACTGTCCATGTC	0.537		NA											86	119					4.87e-31	7.06e-31	1	0
DLG3	1741	broad.mit.edu	37	X	69699025	69699025	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:69699025A>T	uc004dyi.1	+	10	1759	c.1431A>T	c.(1429-1431)ATA>ATT	p.I477I	DLG3_uc004dyj.1_Silent_p.I140I|DLG3_uc011mpn.1_5'UTR	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	477					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					AATCGAAGATACATGACTTAC	0.483		NA											37	112					0	0	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648802	75648802	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:75648802C>T	uc004ecm.1	+	1	686	c.479C>T	c.(478-480)CCG>CTG	p.P160L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	160	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						TCTGAGGTACCGAGCACCTCC	0.682		NA											12	46					0	0	0	0
TBX22	50945	broad.mit.edu	37	X	79286015	79286015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79286015C>T	uc010nmg.1	+	9	1102	c.968C>T	c.(967-969)TCT>TTT	p.S323F	TBX22_uc004edi.1_Missense_Mutation_p.S203F|TBX22_uc004edj.1_Missense_Mutation_p.S323F	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	323					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						AGTGGCTCATCTCCAGTGACC	0.428		NA											33	64					0	0	0	0
FAM46D	169966	broad.mit.edu	37	X	79698469	79698469	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79698469G>T	uc004edl.1	+	5	765	c.431G>T	c.(430-432)TGG>TTG	p.W144L	FAM46D_uc004edm.1_Missense_Mutation_p.W144L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	144										lung(2)	2						CATGATTGTTGGAGTCTTATC	0.368		NA											48	100					2.62e-40	3.84e-40	1	0
BRWD3	254065	broad.mit.edu	37	X	79947378	79947378	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79947378G>A	uc004edt.2	-	30	3688	c.3425C>T	c.(3424-3426)TCC>TTC	p.S1142F	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S738F|BRWD3_uc004edp.2_Missense_Mutation_p.S971F|BRWD3_uc004edq.2_Missense_Mutation_p.S738F|BRWD3_uc010nmj.1_Missense_Mutation_p.S738F|BRWD3_uc004edr.2_Missense_Mutation_p.S812F|BRWD3_uc004eds.2_Missense_Mutation_p.S738F|BRWD3_uc004edu.2_Missense_Mutation_p.S812F|BRWD3_uc004edv.2_Missense_Mutation_p.S738F|BRWD3_uc004edw.2_Missense_Mutation_p.S738F|BRWD3_uc004edx.2_Missense_Mutation_p.S738F|BRWD3_uc004edy.2_Missense_Mutation_p.S738F|BRWD3_uc004edz.2_Missense_Mutation_p.S812F|BRWD3_uc004eea.2_Missense_Mutation_p.S812F|BRWD3_uc004eeb.2_Missense_Mutation_p.S738F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1142										ovary(4)	4						TTCGTCTCTGGAATGAGCCCC	0.478		NA											11	26					0	0	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532534	80532534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:80532534G>T	uc004eef.2	+	2	494	c.97G>T	c.(97-99)GGA>TGA	p.G33*	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Nonsense_Mutation_p.G70*|SH3BGRL_uc010nmn.2_Nonsense_Mutation_p.G70*	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	33						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity	p.G33G(1)		ovary(1)	1		all_lung(315;5.94e-05)				CAACAAAATAGGATTTGAAGA	0.398		NA											11	40					6.82e-15	9.26e-15	1	0
DACH2	117154	broad.mit.edu	37	X	85404039	85404039	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85404039C>G	uc004eew.2	+	1	585	c.415C>G	c.(415-417)CCC>GCC	p.P139A	DACH2_uc004eex.2_Missense_Mutation_p.P139A|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	139	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GGCCATCCAGCCCGGGGTAAA	0.557		NA											13	47					0	0	0	0
DACH2	117154	broad.mit.edu	37	X	85994870	85994870	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85994870C>A	uc004eew.2	+	7	1395	c.1225C>A	c.(1225-1227)CAT>AAT	p.H409N	DACH2_uc004eex.2_Missense_Mutation_p.H396N|DACH2_uc010nmq.2_Missense_Mutation_p.H275N|DACH2_uc011mra.1_Missense_Mutation_p.H242N|DACH2_uc010nmr.2_Missense_Mutation_p.H190N|DACH2_uc004eey.2_Missense_Mutation_p.H92N|DACH2_uc004eez.2_Missense_Mutation_p.H92N	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GATGGATCATCATTTGGAAAG	0.443		NA											5	12					3.6e-05	4.04e-05	1	0
DACH2	117154	broad.mit.edu	37	X	86067962	86067962	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:86067962T>G	uc004eew.2	+	8	1514	c.1344T>G	c.(1342-1344)TTT>TTG	p.F448L	DACH2_uc004eex.2_Missense_Mutation_p.F435L|DACH2_uc010nmq.2_Missense_Mutation_p.F314L|DACH2_uc011mra.1_Missense_Mutation_p.F281L|DACH2_uc010nmr.2_Missense_Mutation_p.F229L|DACH2_uc004eey.2_Missense_Mutation_p.F131L|DACH2_uc004eez.2_Missense_Mutation_p.F131L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						CATTCATTTTTGCTGATAGTC	0.423		NA											8	15					0	0	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928013	92928013	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:92928013C>T	uc004efq.2	-	1	596	c.291G>A	c.(289-291)GTG>GTA	p.V97V	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	97					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						GCAGCCTATCCACGAAATTTG	0.423		NA											13	26					0	0	0	0
DIAPH2	1730	broad.mit.edu	37	X	96220178	96220178	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:96220178G>T	uc004efu.3	+	17	2418	c.2022G>T	c.(2020-2022)TTG>TTT	p.L674F	DIAPH2_uc004eft.3_Missense_Mutation_p.L674F	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	674	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TTGCCAAATTGGCATTGAATT	0.303		NA											9	26					0.000274275	0.000297796	1	0
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100486665C>T	uc004egz.2	+	3	398	c.29C>T	c.(28-30)CCT>CTT	p.P10L	DRP2_uc011mrh.1_Intron	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CAGGGATGCCCTTACACCCTC	0.537		NA											50	125					0	0	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911056	100911056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100911056C>G	uc004eid.2	-	3	1874	c.1519G>C	c.(1519-1521)GTC>CTC	p.V507L	ARMCX2_uc004eie.3_Missense_Mutation_p.V507L|ARMCX2_uc004eif.3_Missense_Mutation_p.V507L|ARMCX2_uc004eig.3_Missense_Mutation_p.V507L|ARMCX2_uc010nnt.2_Missense_Mutation_p.V507L	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	507	ARM 3.					integral to membrane	binding			ovary(6)	6						ATGGAATTGACAAGCAGGTGC	0.378		NA											13	186					0	0	0	0
MID2	11043	broad.mit.edu	37	X	107169922	107169922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107169922C>A	uc004enl.2	+	10	2400	c.1827C>A	c.(1825-1827)TAC>TAA	p.Y609*	MID2_uc004enk.2_Nonsense_Mutation_p.Y579*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	609	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						GCATTGCCTACAAATCAGCTC	0.393		NA											21	72					6.21e-17	8.58e-17	1	0
COL4A5	1287	broad.mit.edu	37	X	107802347	107802347	+	Silent	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107802347A>C	uc004enz.1	+	3	397	c.195A>C	c.(193-195)CCA>CCC	p.P65P	COL4A5_uc011mso.1_Silent_p.P65P	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	65	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CTGGATTTCCAGGTCCAGAAG	0.463		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				21	89					0	0	0	0
KLHL13	90293	broad.mit.edu	37	X	117079426	117079426	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117079426T>C	uc004eql.2	-	2	273	c.211A>G	c.(211-213)AGC>GGC	p.S71G	KLHL13_uc004eqk.2_Missense_Mutation_p.S20G|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.S65G|KLHL13_uc011mtp.1_Missense_Mutation_p.S73G|KLHL13_uc004eqm.2_Missense_Mutation_p.S20G|KLHL13_uc011mtq.1_Missense_Mutation_p.S55G	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	71					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TGGGTATTGCTGGTAAAGATG	0.433		NA											24	64					0	0	0	0
DOCK11	139818	broad.mit.edu	37	X	117788710	117788710	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117788710C>G	uc004eqp.2	+	43	4904	c.4841C>G	c.(4840-4842)ACC>AGC	p.T1614S	DOCK11_uc004eqq.2_Missense_Mutation_p.T1393S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1614	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TATGCAAGCACCCCAGAGCTC	0.433		NA											31	80					0	0	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221772	118221772	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:118221772G>T	uc004era.3	-	11	3421	c.3421C>A	c.(3421-3423)CGG>AGG	p.R1141R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1141										ovary(4)|skin(1)	5						ATAGCAGCCCGCTCGAAATTT	0.468		NA											19	78					2.38e-13	3.2e-13	1	0
NKAP	79576	broad.mit.edu	37	X	119077487	119077487	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:119077487G>T	uc004esh.2	-	1	249	c.82C>A	c.(82-84)CCG>ACG	p.P28T		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	28	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						CTGGGCTTCGGACTCTTCGAC	0.701		NA											19	39					6.45e-10	8.3e-10	1	0
THOC2	57187	broad.mit.edu	37	X	122866840	122866840	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:122866840C>A	uc004etu.2	-	1	65	c.33G>T	c.(31-33)GAG>GAT	p.E11D	THOC2_uc011mui.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	11					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCTTTATCCACTCTGCGGGAA	0.637		NA									OREG0003979|OREG0003978	type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	54					5.04e-11	6.59e-11	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128896688	128896688	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:128896688A>T	uc004eut.1	+	19	1926	c.1682A>T	c.(1681-1683)GAT>GTT	p.D561V		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	561					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						TACTATAAGGATGGAGAATTT	0.542		NA											19	44					0	0	0	0
UTP14A	10813	broad.mit.edu	37	X	129053151	129053151	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129053151G>T	uc004euz.2	+	7	566	c.538G>T	c.(538-540)GCA>TCA	p.A180S	UTP14A_uc011mup.1_Missense_Mutation_p.A128S|UTP14A_uc011muq.1_Missense_Mutation_p.A126S|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	180					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CTTCTTTAAGGCAAGAACTCC	0.433		NA											29	79					3.7e-22	5.26e-22	1	0
GPR119	139760	broad.mit.edu	37	X	129518602	129518602	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129518602G>C	uc011muv.1	-	1	820	c.820C>G	c.(820-822)CTC>GTC	p.L274V		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	274	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2						AGTGGGTTGAGCAGGGAGTTG	0.567		NA											31	64					0	0	0	0
MST4	51765	broad.mit.edu	37	X	131207017	131207017	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:131207017G>C	uc004ewk.1	+	11	1423	c.1122G>C	c.(1120-1122)AGG>AGC	p.R374S	MST4_uc004ewl.1_Missense_Mutation_p.R297S|MST4_uc011mux.1_Missense_Mutation_p.R396S|MST4_uc010nrj.1_Missense_Mutation_p.R350S|MST4_uc004ewm.1_Missense_Mutation_p.R312S	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	374					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACGCTAGCAGGAATCAGGCGA	0.368		NA											44	68					0	0	0	0
TFDP3	51270	broad.mit.edu	37	X	132351548	132351548	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:132351548A>T	uc004exb.1	-	1	829	c.740T>A	c.(739-741)CTG>CAG	p.L247Q		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	247	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGAGTTGGGCAGCGGCCGCTG	0.478		NA											41	135					0	0	0	0
FHL1	2273	broad.mit.edu	37	X	135291444	135291444	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135291444C>A	uc004ezo.2	+	6	831	c.731C>A	c.(730-732)GCT>GAT	p.A244D	FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	244					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					GTCTCTAAAGCTAGGAAGCCC	0.572		NA									OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0.000442599	0.000479857	1	0
GPR112	139378	broad.mit.edu	37	X	135453552	135453552	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135453552G>C	uc004ezu.1	+	14	7753	c.7462G>C	c.(7462-7464)GAA>CAA	p.E2488Q	GPR112_uc010nsb.1_Missense_Mutation_p.E2283Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGTAAAGAAGAGACAAA	0.338		NA											12	32					0	0	0	0
PASD1	139135	broad.mit.edu	37	X	150789407	150789407	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:150789407G>C	uc004fev.3	+	5	545	c.213G>C	c.(211-213)GAG>GAC	p.E71D		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	71	PAS.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGCTGAGATTGTGGGCA	0.234		NA											27	84					0	0	0	0
ATP2B3	492	broad.mit.edu	37	X	152814263	152814263	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:152814263C>A	uc004fht.1	+	8	1415	c.1289C>A	c.(1288-1290)CCA>CAA	p.P430Q	ATP2B3_uc004fhs.1_Missense_Mutation_p.P430Q	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	430	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGTCCCAGAGGGCCTG	0.502		NA											11	50					6.4e-05	7.14e-05	1	0
DKC1	1736	broad.mit.edu	37	X	153994589	153994589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:153994589G>T	uc004fmm.2	+	5	572	c.362G>T	c.(361-363)AGT>ATT	p.S121I	DKC1_uc010nvf.2_Missense_Mutation_p.S121I|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	121					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGGCACAGTGGTACGCTG	0.522		NA							Congenital_Dyskeratosis				24	58					7.88e-14	1.06e-13	1	0
OR2M2	391194	broad.mit.edu	37	1	248343753	248343753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248343753delG	uc010pzf.1	+	1	466	c.466delG	c.(466-468)GGAfs	p.G156fs		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTACAGATGGAATCATTGA	0.433		NA											87	268	---	---	---	---	NA	NA	NA	NA
HPSE2	60495	broad.mit.edu	37	10	100481543	100481543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:100481543delC	uc001kpn.1	-	5	887	c.827delG	c.(826-828)GGCfs	p.G276fs	HPSE2_uc009xwc.1_Frame_Shift_Del_p.G266fs|HPSE2_uc001kpo.1_Frame_Shift_Del_p.G208fs|HPSE2_uc009xwd.1_Frame_Shift_Del_p.G154fs	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	276					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CAACTGGCTGCCATTTACTGC	0.483		NA											24	32	---	---	---	---	NA	NA	NA	NA
SLC2A13	114134	broad.mit.edu	37	12	40223995	40223995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:40223995delC	uc010skm.1	-	7	1406	c.1355delG	c.(1354-1356)GGTfs	p.G452fs	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Frame_Shift_Del_p.G99fs	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	452	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				GTAGCAGAAACCGCAGTCTGG	0.418		NA								HNSCC(50;0.14)			11	56	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49444035	49444045	+	Frame_Shift_Del	DEL	CAGGGCTGGGG	CAGGGCTGGGG	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:49444035_49444045delCAGGGCTGGGG	uc001rta.3	-	11	3326_3336	c.3326_3336delCCCCAGCCCTG	c.(3325-3336)GCCCCAGCCCTGfs	p.A1109fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1109_1112	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGAAGTCATCCAGGGCTGGGGCAGGGCTGGG	0.616		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			8	15	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7579494	7579495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:7579494_7579495insG	uc002gim.2	-	4	386_387	c.192_193insC	c.(190-195)CCCAGAfs	p.P64fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P64fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P64fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.P64fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P64fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P64fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.P25fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P79fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	64_65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R65*(8)|p.0?(7)|p.G59fs*23(3)|p.264_265insSSGNL(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGGCATTCTGGGAGCTTCAT	0.614		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			150	120	---	---	---	---	NA	NA	NA	NA
HNRNPM	4670	broad.mit.edu	37	19	8551028	8551029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8551028_8551029insG	uc010dwe.2	+	14	1796_1797	c.1716_1717insG	c.(1714-1719)GGCGCCfs	p.G572fs	HNRNPM_uc010xke.1_Frame_Shift_Ins_p.G518fs|HNRNPM_uc010dwd.2_Frame_Shift_Ins_p.G533fs|HNRNPM_uc002mka.2_Frame_Shift_Ins_p.G437fs|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	572_573	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						AGCGCATGGGCGCCAACAGCCT	0.713		NA											35	130	---	---	---	---	NA	NA	NA	NA
ZNF808	388558	broad.mit.edu	37	19	53056767	53056767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:53056767delC	uc010epq.1	+	5	775	c.598delC	c.(598-600)CCCfs	p.P200fs	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCTGTAGGCCCCAAATCCA	0.378		NA											105	148	---	---	---	---	NA	NA	NA	NA
MFSD9	84804	broad.mit.edu	37	2	103335456	103335457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:103335456_103335457insA	uc002tcb.2	-	6	915_916	c.847_848insT	c.(847-849)TCCfs	p.S283fs	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	283					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						CCACATTTCGGAAAACAGCAGG	0.574		NA											20	77	---	---	---	---	NA	NA	NA	NA
CNTN4	152330	broad.mit.edu	37	3	3080618	3080618	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:3080618delC	uc003bpc.2	+	18	2315	c.2094delC	c.(2092-2094)CTCfs	p.L698fs	CNTN4_uc003bpb.1_Frame_Shift_Del_p.L369fs|CNTN4_uc003bpe.2_Frame_Shift_Del_p.L370fs|CNTN4_uc003bpf.2_Frame_Shift_Del_p.L369fs|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	698					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTGTGCAGTCCCCGAAGTCA	0.498		NA											12	29	---	---	---	---	NA	NA	NA	NA
GOLIM4	27333	broad.mit.edu	37	3	167742786	167742786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:167742786delG	uc003ffe.2	-	13	2065	c.1721delC	c.(1720-1722)CCAfs	p.P574fs	GOLIM4_uc011bpe.1_Frame_Shift_Del_p.P575fs|GOLIM4_uc011bpf.1_Frame_Shift_Del_p.P547fs|GOLIM4_uc011bpg.1_Frame_Shift_Del_p.P546fs	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	574	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						ATTTTCATCTGGCAAATTTTC	0.418		NA											104	117	---	---	---	---	NA	NA	NA	NA
ATP13A4	84239	broad.mit.edu	37	3	193153532	193153532	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:193153532delC	uc003ftd.2	-	24	2782	c.2674delG	c.(2674-2676)GAAfs	p.E892fs	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	892	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403		NA											26	113	---	---	---	---	NA	NA	NA	NA
ANK2	287	broad.mit.edu	37	4	114278600	114278601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:114278600_114278601insA	uc003ibe.3	+	38	8926_8927	c.8826_8827insA	c.(8824-8829)AGCAAAfs	p.S2942fs	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Frame_Shift_Ins_p.S244fs|ANK2_uc011cgb.1_Frame_Shift_Ins_p.S2957fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2909_2910					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGAAGAAAGCAAAACCCAAAC	0.416		NA											77	110	---	---	---	---	NA	NA	NA	NA
BAI3	577	broad.mit.edu	37	6	70042897	70042897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:70042897delC	uc003pev.3	+	24	3633	c.3185delC	c.(3184-3186)GCCfs	p.A1062fs	BAI3_uc010kak.2_Frame_Shift_Del_p.A1062fs|BAI3_uc011dxx.1_Frame_Shift_Del_p.A268fs|BAI3_uc003pex.1_Frame_Shift_Del_p.A192fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1062	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AAACACAGAGCCGGGTAAGCT	0.388		NA											16	28	---	---	---	---	NA	NA	NA	NA
VNN1	8876	broad.mit.edu	37	6	133015242	133015242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133015242delC	uc003qdo.2	-	3	441	c.421delG	c.(421-423)GACfs	p.D141fs		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	141	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTTCTTGTCCCCAATATTT	0.468		NA											35	78	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:139413070_139413072delAGA	uc004chz.2	-	6	1070_1072	c.1070_1072delTCT	c.(1069-1074)TTCTAC>TAC	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	357	Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			21	20	---	---	---	---	NA	NA	NA	NA
TSPYL2	64061	broad.mit.edu	37	X	53114157	53114157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:53114157delC	uc004drw.2	+	4	1151	c.1019delC	c.(1018-1020)ACCfs	p.T340fs	TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	340				T->A: Impairs effect on cell proliferation; when associated with A-20.	cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						TCTCACTCAACCCCAATCCGC	0.577		NA											48	91	---	---	---	---	NA	NA	NA	NA