Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
UBE4B	10277	broad.mit.edu	37	1	10197176	10197176	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:10197176T>G	uc001aqs.3	+	17	2989	c.2276T>G	c.(2275-2277)TTT>TGT	p.F759C	UBE4B_uc001aqr.3_Missense_Mutation_p.F630C|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.F214C|UBE4B_uc001aqt.1_Missense_Mutation_p.F99C	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	759					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTGCTTCTTTCTCACCCTG	0.468			NA											9	94					0	0	0.004482	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877931	39877931	+	Nonsense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:39877931C>G	uc009vvt.1	+	1	2756	c.1994C>G	c.(1993-1995)TCA>TGA	p.S665*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	529											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGTTACCTCAGGACCTGAA	0.393			NA											7	143					0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103355112	103355112	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:103355112G>A	uc001dul.2	-	59	4681	c.4363C>T	c.(4363-4365)CCT>TCT	p.P1455S	COL11A1_uc001duk.2_Missense_Mutation_p.P651S|COL11A1_uc001dum.2_Missense_Mutation_p.P1467S|COL11A1_uc001dun.2_Missense_Mutation_p.P1416S|COL11A1_uc009weh.2_Missense_Mutation_p.P1339S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1455	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTAAACCAGGATGTCCCTTT	0.388			NA											3	45					0	0	0.004672	0	0
NTNG1	22854	broad.mit.edu	37	1	107937934	107937934	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:107937934G>A	uc001dvh.3	+	4	1764	c.1046G>A	c.(1045-1047)GGC>GAC	p.G349D	NTNG1_uc001dvf.3_Missense_Mutation_p.G349D|NTNG1_uc010out.1_Missense_Mutation_p.G349D|NTNG1_uc001dvc.3_Missense_Mutation_p.G349D|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R21R|NTNG1_uc001dvd.1_Missense_Mutation_p.G349D	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	349	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATCCCCAAAGGCACTGCAAAT	0.448			NA											21	84					0	0	0.008871	0	0
ITGA10	8515	broad.mit.edu	37	1	145534172	145534172	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:145534172G>A	uc001eoa.2	+	14	1753	c.1677G>A	c.(1675-1677)CTG>CTA	p.L559L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L428L|ITGA10_uc009wiw.2_Silent_p.L416L|ITGA10_uc010oyw.1_Silent_p.L504L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	559	Potential.|Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGATCTGAACCAAGATG	0.582			NA											10	180					0	0	0.010729	0	0
FLG	2312	broad.mit.edu	37	1	152282874	152282874	+	Missense_Mutation	SNP	G	G	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:152282874G>C	uc001ezu.1	-	3	4524	c.4488C>G	c.(4486-4488)AGC>AGG	p.S1496R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1496	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCTGCTTGACCCCG	0.577			NA							Ichthyosis				220	475					0	0	0.01441	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749082	211749082	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:211749082T>C	uc001hio.1	-	2	1317	c.1172A>G	c.(1171-1173)GAA>GGA	p.E391G		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	391	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TGTTGGATCTTCACATTTTAT	0.388			NA											3	65					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216251437	216251437	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:216251437C>G	uc001hku.1	-	27	5953	c.5566G>C	c.(5566-5568)GAA>CAA	p.E1856Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1856	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTTGTTCCAAACACAAA	0.458			NA								HNSCC(13;0.011)			6	88					0	0	0.001984	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715378	222715378	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:222715378C>A	uc001hnh.1	-	3	1152	c.1094G>T	c.(1093-1095)GGC>GTC	p.G365V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	365					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAACAGGCCAAAGGGATC	0.537			NA											20	51					4.54149e-19	6.34094e-19	0.014323	1	0
CNST	163882	broad.mit.edu	37	1	246810486	246810486	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:246810486A>G	uc001ibp.2	+	9	1361	c.983A>G	c.(982-984)CAT>CGT	p.H328R	CNST_uc001ibo.3_Missense_Mutation_p.H328R	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	328					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						GAAAGCCAACATACAGTGGAG	0.433			NA									OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	90					0	0	0.014323	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256140	15256140	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:15256140C>G	uc001iob.2	-	8	1454	c.1447G>C	c.(1447-1449)GAT>CAT	p.D483H		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	483	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CTGTAGTCATCATTGCCCGAG	0.483			NA											15	83					0	0	0.00245	0	0
CCNY	219771	broad.mit.edu	37	10	35842027	35842027	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:35842027C>T	uc001iyw.3	+	8	840	c.660C>T	c.(658-660)ATC>ATT	p.I220I	CCNY_uc001iyu.3_Silent_p.I166I|CCNY_uc001iyv.3_Silent_p.I166I|CCNY_uc001iyx.3_Silent_p.I166I|CCNY_uc009xmb.2_Silent_p.I195I|CCNY_uc010qet.1_Silent_p.I87I	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	220	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						TAGGGGCGATCCTGCTGGCCT	0.512			NA											8	83					0	0	0.00308	0	0
NEURL	9148	broad.mit.edu	37	10	105350046	105350046	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:105350046C>T	uc001kxh.2	+	6	2052	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	548	RING-type.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGTGGCCTGCGCCTCAAGAA	0.622			NA											7	40					0	0	0.001984	0	0
CCDC147	159686	broad.mit.edu	37	10	106121912	106121912	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:106121912A>T	uc001kyh.2	+	3	557	c.423A>T	c.(421-423)TCA>TCT	p.S141S		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	141	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTGGACTGTCAATGGACCAGC	0.488			NA											3	8					0	0	0.004672	0	0
ZNF511	118472	broad.mit.edu	37	10	135125252	135125252	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:135125252G>T	uc001lml.1	+	5	612	c.587G>T	c.(586-588)GGA>GTA	p.G196V	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.G196V|ZNF511_uc001lmk.1_Missense_Mutation_p.W176C|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGGACAGTGGAGAGCGGTCA	0.627			NA											10	62					0.000673444	0.000743804	0.008291	1	0
TH	7054	broad.mit.edu	37	11	2189733	2189733	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:2189733C>A	uc001lvq.2	-	4	587	c.568G>T	c.(568-570)GCG>TCG	p.A190S	TH_uc001lvp.2_Missense_Mutation_p.A186S|TH_uc001lvr.2_Missense_Mutation_p.A159S|TH_uc010qxj.1_Missense_Mutation_p.A163S|TH_uc001lvs.2_Missense_Mutation_p.A159S|TH_uc001lvt.2_Missense_Mutation_p.A163S|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	190					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TTGGGCCCCGCGGGGCTGCGC	0.687			NA											3	28					0.004672	0.00490394	0.004672	1	0
OR56B1	387748	broad.mit.edu	37	11	5758467	5758467	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:5758467G>A	uc001mbt.1	+	1	721	c.721G>A	c.(721-723)GAA>AAA	p.E241K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAACTCAGCTGAAGCTGCAGC	0.423			NA											21	83					0	0	0.008871	0	0
NELL1	4745	broad.mit.edu	37	11	21592368	21592368	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:21592368T>C	uc001mqe.2	+	18	2192	c.2039T>C	c.(2038-2040)CTA>CCA	p.L680P	NELL1_uc001mqf.2_Missense_Mutation_p.L633P|NELL1_uc009yid.2_Missense_Mutation_p.L708P|NELL1_uc010rdo.1_Missense_Mutation_p.L623P|NELL1_uc010rdp.1_Missense_Mutation_p.L393P|NELL1_uc001mqh.2_Missense_Mutation_p.L225P	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	680	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						AGTGCTGACCTATTCTGTTGC	0.438			NA											16	82					0	0	0.004007	0	0
RAG1	5896	broad.mit.edu	37	11	36596428	36596428	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:36596428C>A	uc001mwu.3	+	2	1698	c.1574C>A	c.(1573-1575)CCT>CAT	p.P525H	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	525					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TGGCAGCCACCTCTGAAGAAT	0.493	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		NA							Familial_Hemophagocytic_Lymphohistiocytosis				20	77					2.4624e-09	3.22509e-09	0.008871	1	0
ALX4	60529	broad.mit.edu	37	11	44289169	44289169	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:44289169A>G	uc001myb.2	-	3	885	c.781T>C	c.(781-783)TGG>CGG	p.W261R		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	261	Homeobox.				hair follicle development						0						TTCTGGAACCAGACCTACAAG	0.577			NA											20	69					0	0	0.010504	0	0
AGBL2	79841	broad.mit.edu	37	11	47712126	47712126	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:47712126G>A	uc001ngg.2	-	9	1233	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.T340M|AGBL2_uc001ngh.1_Missense_Mutation_p.T322M	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						AATGGTCCACGTGAGACAGTA	0.468			NA											22	98					0	0	0.00333	0	0
OR4A5	81318	broad.mit.edu	37	11	51412273	51412273	+	Silent	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:51412273C>A	uc001nhi.1	-	1	123	c.123G>T	c.(121-123)CTG>CTT	p.L41L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				CCACAATGAGCAGGTTCCCCA	0.448			NA											12	32					2.27111e-07	2.77789e-07	0.013537	1	0
OR5T2	219464	broad.mit.edu	37	11	55999948	55999948	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:55999948G>T	uc010rjc.1	-	1	714	c.714C>A	c.(712-714)CTC>CTA	p.L238L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	238	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAAAGTAGAAGAGTAGAAGCT	0.428			NA											14	87					4.93089e-13	6.63429e-13	0.00245	1	0
TMEM179B	374395	broad.mit.edu	37	11	62554927	62554927	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:62554927C>T	uc001nvd.3	+	1	54	c.24C>T	c.(22-24)CGC>CGT	p.R8R		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	8						integral to membrane					0						GGCTGCAGCGCGTCGAGCTTG	0.726			NA									OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.004672	0	0
FERMT3	83706	broad.mit.edu	37	11	63990560	63990560	+	Missense_Mutation	SNP	A	A	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:63990560A>C	uc001nyl.2	+	14	1872	c.1723A>C	c.(1723-1725)AAC>CAC	p.N575H	FERMT3_uc001nym.2_Missense_Mutation_p.N571H	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	575					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GGGCATCGCCAACAACCGACT	0.627			NA											13	53					0	0	0.001855	0	0
SIPA1	6494	broad.mit.edu	37	11	65408900	65408900	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:65408900G>A	uc001ofb.2	+	2	675	c.508G>A	c.(508-510)GGG>AGG	p.G170R	SIPA1_uc010rom.1_Missense_Mutation_p.G170R|SIPA1_uc001ofd.2_Missense_Mutation_p.G170R	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	170					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						GTGTGAGCTCGGGGGTGAGGG	0.677			NA											6	77					0	0	0.001984	0	0
USP35	57558	broad.mit.edu	37	11	77918630	77918630	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:77918630C>T	uc009yva.1	+	8	1692	c.1446C>T	c.(1444-1446)ACC>ACT	p.T482T	USP35_uc001oze.2_Silent_p.T238T|USP35_uc001ozc.2_Silent_p.T50T|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.T93T|USP35_uc001ozf.2_Silent_p.T213T	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	482					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCTGATGACCAAGCTGCAGT	0.582			NA											17	104					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92615964	92615964	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:92615964G>A	uc001pdj.3	+	23	12359	c.12342G>A	c.(12340-12342)GTG>GTA	p.V4114V	FAT3_uc001pdi.3_Silent_p.V554V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4114	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTCCTGCGTGAACGTGTTCG	0.637			NA								TCGA Ovarian(4;0.039)			5	12					0	0	0.001168	0	0
OR6M1	390261	broad.mit.edu	37	11	123676438	123676438	+	Missense_Mutation	SNP	G	G	A	rs146786799		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:123676438G>A	uc010rzz.1	-	1	620	c.620C>T	c.(619-621)TCC>TTC	p.S207F		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S207F(1)		skin(2)	2		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;0.028)		GAATGCCAGGGAGCTCAGGAT	0.483			NA											3	43					0	0	0.004672	0	0
ITPR2	3709	broad.mit.edu	37	12	26810659	26810659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:26810659C>A	uc001rhg.2	-	18	2590	c.2173G>T	c.(2173-2175)GAA>TAA	p.E725*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	725	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTAAGAACTTCTAAGTCAGCT	0.398			NA											13	75					1.5842e-08	2.00395e-08	0.001855	1	0
YARS2	51067	broad.mit.edu	37	12	32908428	32908428	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:32908428C>G	uc001rli.2	-	1	447	c.381G>C	c.(379-381)AAG>AAC	p.K127N		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	127					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CCTCGCGTTCCTTGGTACGGC	0.682			NA									OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	0.000602	0	0
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:52845437C>A	uc001sak.2	-	1	474	c.426G>T	c.(424-426)CAG>CAT	p.Q142H		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGGAGACTCTGGTTGACAG	0.622			NA											12	160					0.00136819	0.00146734	0.013537	1	0
ITGA5	3678	broad.mit.edu	37	12	54801969	54801969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:54801969C>A	uc001sga.2	-	7	810	c.742G>T	c.(742-744)GAG>TAG	p.E248*	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	248	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						ATCAGGTACTCGGGGTAATAA	0.547			NA											13	45					1.49906e-05	1.77489e-05	0.00245	1	0
ATP2A2	488	broad.mit.edu	37	12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:110783811C>T	uc001tqk.3	+	19	3310	c.2747C>T	c.(2746-2748)TCC>TTC	p.S916F	ATP2A2_uc001tql.3_Missense_Mutation_p.S916F|ATP2A2_uc010sxy.1_Missense_Mutation_p.S889F|ATP2A2_uc001tqn.3_5'UTR|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	916	Helical; Name=8; (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						TGCAGCTTGTCCGAAAACCAG	0.572			NA											13	73					0	0	0.013537	0	0
IFT88	8100	broad.mit.edu	37	13	21205212	21205212	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:21205212G>T	uc001unh.2	+	18	1780	c.1384G>T	c.(1384-1386)GCA>TCA	p.A462S	IFT88_uc001uni.2_Missense_Mutation_p.A453S|IFT88_uc001unj.2_Missense_Mutation_p.A452S|IFT88_uc010tcq.1_Missense_Mutation_p.A433S|IFT88_uc001unk.2_Missense_Mutation_p.A208S|IFT88_uc001unl.1_Missense_Mutation_p.A80S	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	462	TPR 6.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGTGCAGCTGCAACCAATCT	0.343			NA											11	69					2.80697e-09	3.61245e-09	0.010729	1	0
MTUS2	23281	broad.mit.edu	37	13	29600083	29600083	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:29600083A>T	uc001usl.3	+	1	1336	c.1278A>T	c.(1276-1278)CCA>CCT	p.P426P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	416						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAATTTCACCATGTGCAGGTG	0.512			NA											9	41					0	0	0.004482	0	0
CPB2	1361	broad.mit.edu	37	13	46632454	46632454	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:46632454G>T	uc001vaw.2	-	9	926	c.859C>A	c.(859-861)CCA>ACA	p.P287T	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.P250T	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	287					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCACTTCTGGTTCTGACTCA	0.418			NA											6	87					0.00116845	0.00126226	0.001168	1	0
DNAJC3	5611	broad.mit.edu	37	13	96416145	96416145	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:96416145A>G	uc001vmq.2	+	9	1121	c.1013A>G	c.(1012-1014)GAC>GGC	p.D338G	DNAJC3_uc001vmr.2_Missense_Mutation_p.D287G	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	338	TPR 8.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATGGAACCTGACAATGTGAAT	0.393			NA											10	74					0	0	0.006214	0	0
CLYBL	171425	broad.mit.edu	37	13	100511246	100511246	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:100511246G>T	uc001vok.2	+	3	395	c.381G>T	c.(379-381)CGG>CGT	p.R127R	CLYBL_uc010tix.1_Silent_p.R127R|CLYBL_uc010tiy.1_Silent_p.R127R	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	127					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCAATCCCGGGTCCTTCCTT	0.488			NA											9	28					2.74318e-10	3.65757e-10	0.006214	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68264919	68264919	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr14:68264919G>A	uc001xka.2	-	11	2199	c.2060C>T	c.(2059-2061)GCC>GTC	p.A687V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A687V|ZFYVE26_uc010tta.1_Missense_Mutation_p.A687V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	687					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTGAGGAAGGCCCCTATTGC	0.483			NA											9	54					0	0	0.004482	0	0
SPATA7	55812	broad.mit.edu	37	14	88857734	88857734	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr14:88857734C>T	uc001xwq.2	+	2	180	c.29C>T	c.(28-30)ACC>ATC	p.T10I	SPATA7_uc001xwr.2_Missense_Mutation_p.T10I	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	10					response to stimulus|visual perception					ovary(1)	1						GTCAGAGCAACCTCTGTCCTT	0.318			NA											3	14					0	0	0.004672	0	0
PIGB	9488	broad.mit.edu	37	15	55613537	55613537	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr15:55613537A>T	uc002act.2	+	3	682	c.366A>T	c.(364-366)GCA>GCT	p.A122A	uc002acs.2_5'Flank|PIGB_uc010ugg.1_Intron	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		TAATCTTTGCAAGCATTTACA	0.328			NA											5	10					0	0	0.00308	0	0
VPS33B	26276	broad.mit.edu	37	15	91548985	91548985	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr15:91548985C>T	uc002bqp.1	-	13	1323	c.969G>A	c.(967-969)ATG>ATA	p.M323I	VPS33B_uc002bqq.1_Missense_Mutation_p.M232I|VPS33B_uc010uqu.1_Missense_Mutation_p.M296I	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	323					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAAATTCTTCATCTGCTTAA	0.567			NA											9	85					0	0	0.006214	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr15:102515299G>A	uc002cdi.2	+	9	1943	c.523G>A	c.(523-525)GGC>AGC	p.G175S	WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	NR_003659				RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;												0						TGGGGGCATCGGCAAGGCCAA	0.652			NA											9	15					0	0	0.008291	0	0
GDE1	51573	broad.mit.edu	37	16	19514835	19514835	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:19514835T>C	uc002dgh.2	-	6	1117	c.953A>G	c.(952-954)TAT>TGT	p.Y318C	GDE1_uc002dgi.2_Missense_Mutation_p.Y208C	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	318	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GTCAGTGATATAGCTGGAACC	0.458			NA									OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	77					0	0	0.013537	0	0
ACSM5	54988	broad.mit.edu	37	16	20430747	20430747	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:20430747G>A	uc002dhe.2	+	4	760	c.613G>A	c.(613-615)GAA>AAA	p.E205K	ACSM5_uc002dhd.1_Missense_Mutation_p.E205K	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	205					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GAACTTCAGGGAACTCCTCCG	0.517			NA											12	37					0	0	0.001855	0	0
MYH3	4621	broad.mit.edu	37	17	10537453	10537453	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:10537453A>G	uc002gmq.1	-	31	4480	c.4403T>C	c.(4402-4404)CTG>CCG	p.L1468P		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1468	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GGATGCCTCCAGCTCTGCTTG	0.507			NA											5	103					0	0	0.001168	0	0
HOXB1	3211	broad.mit.edu	37	17	46607756	46607756	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:46607756C>G	uc002ink.1	-	1	517	c.511G>C	c.(511-513)GAA>CAA	p.E171Q		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	171						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTGTTAGGTTCTGAAGGGCAG	0.602			NA											7	40					0	0	0.001984	0	0
DLX4	1748	broad.mit.edu	37	17	48051138	48051138	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:48051138G>A	uc002ipv.2	+	3	825	c.554G>A	c.(553-555)GGG>GAG	p.G185E	DLX4_uc002ipw.2_Missense_Mutation_p.G113E	NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	185					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCAGGAAGGGGACTTCCCT	0.557			NA											37	127					0	0	0.003755	0	0
NOL4	8715	broad.mit.edu	37	18	31803075	31803075	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr18:31803075G>T	uc010dmi.2	-	1	372	c.143C>A	c.(142-144)ACG>AAG	p.T48K	NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.T48K|NOL4_uc002kxt.3_Missense_Mutation_p.T48K	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	48						nucleolus	RNA binding			ovary(3)	3						GGCGTTGTCCGTGGAGCTCGA	0.597			NA											9	71					3.86212e-05	4.43096e-05	0.008291	1	0
ADNP2	22850	broad.mit.edu	37	18	77895840	77895840	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr18:77895840C>G	uc002lnw.2	+	4	2999	c.2544C>G	c.(2542-2544)CAC>CAG	p.H848Q		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	848					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGGGATACACTCCAAGTCAC	0.567			NA											13	83					0	0	0.003163	0	0
TJP3	27134	broad.mit.edu	37	19	3736270	3736270	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:3736270G>A	uc010xhv.1	+	10	1334	c.1334G>A	c.(1333-1335)GGC>GAC	p.G445D	TJP3_uc010xhs.1_Missense_Mutation_p.G412D|TJP3_uc010xht.1_Missense_Mutation_p.G376D|TJP3_uc010xhu.1_Missense_Mutation_p.G421D|TJP3_uc010xhw.1_Missense_Mutation_p.G431D	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	426	PDZ 3.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGGCGGGCAGCCCGGCC	0.697			NA											3	30					0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38983277	38983277	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:38983277G>A	uc002oit.2	+	38	6404	c.6274_splice	c.e38+1	p.R2092_splice	RYR1_uc002oiu.2_Splice_Site_p.R2092_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAAACCCCGTGAGGACTGG	0.627			NA											3	11					0	0	0.004672	0	0
SAMD4B	55095	broad.mit.edu	37	19	39871697	39871697	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:39871697G>A	uc002olb.2	+	14	2951	c.1916G>A	c.(1915-1917)CGC>CAC	p.R639H	SAMD4B_uc002ola.2_Missense_Mutation_p.R639H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	639							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTGCAGCGCACCCACTCG	0.607			NA											5	72					0	0	0.000602	0	0
PSG11	5680	broad.mit.edu	37	19	43523108	43523108	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:43523108C>G	uc002ovm.1	-	3	630	c.523G>C	c.(523-525)GAC>CAC	p.D175H	PSG11_uc002ouw.2_Missense_Mutation_p.D181H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D181H|PSG11_uc002ovn.1_Missense_Mutation_p.D181H|PSG11_uc002ovo.1_Missense_Mutation_p.D53H|PSG11_uc002ovp.1_Missense_Mutation_p.D53H	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAGCTTGCGTCCGGAGTCTCA	0.527			NA											26	336					0	0	0.00333	0	0
CLEC11A	6320	broad.mit.edu	37	19	51228604	51228604	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:51228604C>T	uc002psy.2	+	4	1030	c.852C>T	c.(850-852)AGC>AGT	p.S284S		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	284	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATCCGCTCAGCCCGGACCAGC	0.701			NA											6	15					0	0	0.001984	0	0
ZNF845	91664	broad.mit.edu	37	19	53854728	53854728	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:53854728G>T	uc010ydv.1	+	4	917	c.800G>T	c.(799-801)GGC>GTC	p.G267V	ZNF845_uc010ydw.1_Missense_Mutation_p.G267V	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTCACACTGGCAAGAAACCT	0.393			NA											7	61					2.7689e-08	3.47285e-08	0.001984	1	0
ZNF813	126017	broad.mit.edu	37	19	53989968	53989968	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:53989968A>G	uc002qbu.2	+	3	226	c.98A>G	c.(97-99)TAC>TGC	p.Y33C	ZNF813_uc010eqq.1_RNA	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGGACTCTATACAGGGACGTG	0.473			NA											22	131					0	0	0.003954	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699682	17699682	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:17699682T>A	uc002rcl.1	-	1	25	c.1A>T	c.(1-3)ATG>TTG	p.M1L	RAD51AP2_uc010exn.1_Intron	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGAGAGACATGACAGCGAAT	0.622			NA											14	95					0	0	0.004007	0	0
QPCT	25797	broad.mit.edu	37	2	37594376	37594376	+	Missense_Mutation	SNP	C	C	G	rs151306583		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:37594376C>G	uc002rqg.2	+	4	670	c.548C>G	c.(547-549)ACT>AGT	p.T183S	QPCT_uc002rqh.2_Missense_Mutation_p.T134S	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	183					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTTACCAGACTGTTTCAGAC	0.363			NA											11	76					0	0	0.001855	0	0
CCDC88A	55704	broad.mit.edu	37	2	55646180	55646180	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:55646180C>G	uc002ryv.2	-	1	878	c.36G>C	c.(34-36)CAG>CAC	p.Q12H	CCDC88A_uc010yoz.1_Missense_Mutation_p.Q12H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q12H|CCDC88A_uc010fbz.2_RNA	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	12					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGGTCATGAACTGCTCCAGAA	0.423			NA											11	36					0	0	0.001855	0	0
C2orf65	130951	broad.mit.edu	37	2	74834325	74834325	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:74834325C>T	uc002smy.2	-	4	569	c.452G>A	c.(451-453)GGA>GAA	p.G151E	C2orf65_uc010ysa.1_Missense_Mutation_p.G151E|C2orf65_uc002smz.2_Missense_Mutation_p.G151E	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	151					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						CACCTCTTTTCCAGGCTGAGA	0.443			NA											6	70					0	0	0.001168	0	0
REV1	51455	broad.mit.edu	37	2	100019435	100019435	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:100019435T>G	uc002tad.2	-	20	3513	c.3301A>C	c.(3301-3303)ACT>CCT	p.T1101P	REV1_uc002tac.2_Missense_Mutation_p.T1100P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	1101					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CCTGGCAGAGTTTTTGCAGGA	0.383			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					8	66					0	0	0.00308	0	0
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:109292448C>T	uc002teg.2	+	6	728	c.609C>T	c.(607-609)CGC>CGT	p.R203R	LIMS1_uc002tef.2_Silent_p.R215R|LIMS1_uc002teh.2_Silent_p.R203R|LIMS1_uc002tei.2_Silent_p.R203R|LIMS1_uc002tej.2_Silent_p.R240R|LIMS1_uc002tek.3_Silent_p.R265R	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						TCGAAGGGCGCGTGGTGAACG	0.537			NA											8	35					0	0	0.00308	0	0
POTEF	728378	broad.mit.edu	37	2	130832520	130832520	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:130832520A>T	uc010fmh.2	-	17	2925	c.2525T>A	c.(2524-2526)CTG>CAG	p.L842Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	842	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						AGAGGTGTACAGGGACAGCAC	0.587			NA											41	428					0	0	0.009718	0	0
KIAA1486	57624	broad.mit.edu	37	2	226446708	226446708	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:226446708C>A	uc002voe.2	+	4	750	c.575C>A	c.(574-576)CCT>CAT	p.P192H	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	192										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AAGATTCCTCCTCCCAAACCG	0.473			NA											32	161					3.99451e-17	5.52511e-17	0.009535	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669637	234669637	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:234669637C>T	uc002vvb.2	+	1	719	c.704C>T	c.(703-705)TCA>TTA	p.S235L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S235L	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	235					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCTTGCCTCAGAATTCCTT	0.493			NA											9	157					0	0	0.004482	0	0
TRPM8	79054	broad.mit.edu	37	2	234871956	234871956	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:234871956C>G	uc002vvh.2	+	13	1724	c.1684C>G	c.(1684-1686)CAA>GAA	p.Q562E	TRPM8_uc010fyj.2_Missense_Mutation_p.Q250E	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	562	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCACCCCCTGCAAGCTCTCTT	0.502			NA											3	43					0	0	0.009096	0	0
TGM3	7053	broad.mit.edu	37	20	2293605	2293605	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:2293605G>T	uc002wfx.3	+	5	699	c.602G>T	c.(601-603)CGT>CTT	p.R201L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	201					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R201C(1)|p.R201H(1)		large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	AATTTCCGCCGTGACGCTGCT	0.458			NA											11	78					0.000978159	0.00107235	0.010729	1	0
PAK7	57144	broad.mit.edu	37	20	9546635	9546635	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:9546635C>T	uc002wnl.2	-	6	1932	c.1387G>A	c.(1387-1389)GTA>ATA	p.V463I	PAK7_uc002wnk.2_Missense_Mutation_p.V463I|PAK7_uc002wnj.2_Missense_Mutation_p.V463I|PAK7_uc010gby.1_Missense_Mutation_p.V463I	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	463	Protein kinase.|ATP (By similarity).						ATP binding|protein binding|protein serine/threonine kinase activity	p.V463L(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GCGATGCATACGATGCCGGTT	0.522			NA											6	143					0	0	0.001984	0	0
HNF4A	3172	broad.mit.edu	37	20	43034755	43034755	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:43034755C>T	uc002xma.2	+	2	262	c.173C>T	c.(172-174)GCC>GTC	p.A58V	HNF4A_uc010zwo.1_Missense_Mutation_p.P49S|HNF4A_uc002xlt.2_Missense_Mutation_p.A36V|HNF4A_uc002xlu.2_Missense_Mutation_p.A36V|HNF4A_uc002xlv.2_Missense_Mutation_p.A36V|HNF4A_uc002xly.2_Missense_Mutation_p.A58V|HNF4A_uc002xlz.2_Missense_Mutation_p.A58V|HNF4A_uc010ggq.2_Missense_Mutation_p.A51V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	58	Nuclear receptor.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGTCAGCGCCCTGTGTGCC	0.632	Colon(79;2 1269 8820 14841 52347)		NA											37	133					0	0	0.004878	0	0
SALL4	57167	broad.mit.edu	37	20	50407055	50407055	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:50407055G>A	uc002xwh.3	-	2	2068	c.1967C>T	c.(1966-1968)ACG>ATG	p.T656M	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	656					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGGCAGGGGCGTGTTGGGAAT	0.547			NA											5	64					0	0	0.001168	0	0
ZNF831	128611	broad.mit.edu	37	20	57766574	57766574	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:57766574C>T	uc002yan.2	+	1	500	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	167						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CGGTCCCACACGGGTGAGAGG	0.612			NA											8	158					0	0	0.00308	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349347	58349347	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:58349347C>T	uc002yau.2	+	7	1443	c.976C>T	c.(976-978)CGT>TGT	p.R326C	PHACTR3_uc002yat.2_Missense_Mutation_p.R323C|PHACTR3_uc010zzw.1_Missense_Mutation_p.R285C|PHACTR3_uc002yav.2_Missense_Mutation_p.R285C|PHACTR3_uc002yaw.2_Missense_Mutation_p.R285C|PHACTR3_uc002yax.2_Missense_Mutation_p.R215C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	326						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCTGGATGTCCGTCTGTCGAG	0.532			NA											3	60					0	0	0.004672	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:61513083C>T	uc002ydr.1	-	16	4489	c.4225G>A	c.(4225-4227)GAG>AAG	p.E1409K	DIDO1_uc002yds.1_Missense_Mutation_p.E1409K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)		NA											13	108					0	0	0.00245	0	0
PARVG	64098	broad.mit.edu	37	22	44585089	44585089	+	Silent	SNP	C	C	A	rs149519388		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr22:44585089C>A	uc011aqe.1	+	6	767	c.343C>A	c.(343-345)CGG>AGG	p.R115R	PARVG_uc003bep.2_Silent_p.R115R|PARVG_uc011aqf.1_Silent_p.R115R|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	115	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				GGCCGTGAACCGGAGTCTGCA	0.647			NA											11	42					3.86212e-05	4.43096e-05	0.008291	1	0
KCNH8	131096	broad.mit.edu	37	3	19575248	19575248	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:19575248C>T	uc003cbk.1	+	16	3176	c.2981C>T	c.(2980-2982)TCA>TTA	p.S994L	KCNH8_uc010hex.1_Missense_Mutation_p.S455L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	994	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CTTGATTATTCACCTTCCCAC	0.478	NSCLC(124;1625 1765 8018 24930 42026)		NA											20	112					0	0	0.007413	0	0
MYLK	4638	broad.mit.edu	37	3	123337498	123337498	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:123337498A>T	uc003ego.2	-	33	5770	c.5488T>A	c.(5488-5490)TGC>AGC	p.C1830S	uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.C70S|MYLK_uc003egm.2_Missense_Mutation_p.C69S|MYLK_uc010hrr.2_Missense_Mutation_p.C265S|MYLK_uc011bjv.1_Missense_Mutation_p.C630S|MYLK_uc011bjw.1_Missense_Mutation_p.C1829S|MYLK_uc003egp.2_Missense_Mutation_p.C1761S|MYLK_uc003egq.2_Missense_Mutation_p.C1779S|MYLK_uc003egr.2_Missense_Mutation_p.C1710S|MYLK_uc003egs.2_Missense_Mutation_p.C1654S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1830	Ig-like C2-type 9.				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)		TCAATCTTGCAGTCAAATCTA	0.473			NA											9	88					0	0	0.010729	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	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	Colon(199;1504 1750 3362 26421 31210 32040)	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)			9	27					0	0	0.010729	0	0
MUC4	4585	broad.mit.edu	37	3	195515885	195515885	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:195515885C>T	uc011bto.1	-	2	3026	c.2566G>A	c.(2566-2568)GCC>ACC	p.A856T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A738T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	861	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGGATGGCACCATGACTG	0.577			NA											6	45					0	0	0.001984	0	0
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:75673268C>G	uc003hig.2	-	5	867	c.520G>C	c.(520-522)GAG>CAG	p.E174Q		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	174	Cytoplasmic (Potential).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338			NA											3	52					0	0	0.004672	0	0
FAM190A	401145	broad.mit.edu	37	4	91230499	91230499	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:91230499T>A	uc003hsv.3	+	2	1404	c.1064T>A	c.(1063-1065)CTA>CAA	p.L355Q	FAM190A_uc003hsu.3_Missense_Mutation_p.L355Q|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.L355Q	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	355										large_intestine(1)|ovary(1)	2						ATTGCTGAACTACCTGCTACA	0.408			NA											15	53					0	0	0.00499	0	0
PAPSS1	9061	broad.mit.edu	37	4	108578069	108578069	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:108578069A>T	uc003hyk.2	-	7	962	c.878T>A	c.(877-879)TTT>TAT	p.F293Y	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	293	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AAGACAATCAAAATGAAGGCA	0.393			NA											16	48					0	0	0.00499	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964049	33964049	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:33964049C>A	uc003jid.2	-	3	727	c.635G>T	c.(634-636)GGT>GTT	p.G212V	SLC45A2_uc003jie.2_Missense_Mutation_p.G212V|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	212	Extracellular (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAATTCTGTACCCAACAGTCT	0.473	Ovarian(31;380 859 8490 22203 49048)		NA											14	47					3.27435e-08	4.03837e-08	0.00245	1	0
C5orf44	80006	broad.mit.edu	37	5	64960080	64960080	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:64960080C>A	uc003jtz.3	+	12	1345	c.1015C>A	c.(1015-1017)CTG>ATG	p.L339M	C5orf44_uc003jua.3_Missense_Mutation_p.L340M|C5orf44_uc003juc.3_Missense_Mutation_p.L333M|C5orf44_uc010iwv.2_Missense_Mutation_p.L334M	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	339										ovary(1)	1						GACTATGGATCTGGTTTTGGA	0.413			NA											24	115					8.24728e-16	1.13018e-15	0.004656	1	0
PCDHA11	56138	broad.mit.edu	37	5	140249937	140249937	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:140249937G>A	uc003lia.2	+	1	2107	c.1249G>A	c.(1249-1251)GTG>ATG	p.V417M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V417M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	417	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAACGTGTGGGCCTA	0.622			NA											12	176					0	0	0.013537	0	0
UNC5A	90249	broad.mit.edu	37	5	176301080	176301080	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:176301080G>T	uc003mey.2	+	7	1190	c.998G>T	c.(997-999)GGG>GTG	p.G333V	UNC5A_uc010jkg.1_Missense_Mutation_p.G293V	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	333	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGGAGGGGCTGGACTCA	0.632			NA											8	39					5.4927e-09	7.00793e-09	0.004482	1	0
UNC5A	90249	broad.mit.edu	37	5	176304986	176304986	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:176304986G>A	uc003mey.2	+	11	1919	c.1727G>A	c.(1726-1728)GGC>GAC	p.G576D		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	576	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCTGGGCCGCTTTGCC	0.667			NA											15	36					0	0	0.00245	0	0
RMND5B	64777	broad.mit.edu	37	5	177571094	177571094	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:177571094C>G	uc003mim.2	+	7	859	c.679C>G	c.(679-681)CGG>GGG	p.R227G	RMND5B_uc003min.2_Missense_Mutation_p.R227G|RMND5B_uc003mio.2_Missense_Mutation_p.R214G|RMND5B_uc003mip.2_Missense_Mutation_p.R227G|RMND5B_uc011dgf.1_Missense_Mutation_p.R268G|RMND5B_uc003miq.2_Missense_Mutation_p.R167G	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	227										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTTGCTCGGCTGCACCA	0.637			NA											5	67					0	0	0.000602	0	0
GRM4	2914	broad.mit.edu	37	6	34029800	34029800	+	Missense_Mutation	SNP	C	C	T	rs144674222		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:34029800C>T	uc003oir.3	-	3	912	c.742G>A	c.(742-744)GTG>ATG	p.V248M	GRM4_uc011dsn.1_Missense_Mutation_p.V248M|GRM4_uc010jvh.2_Missense_Mutation_p.V248M|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc003oio.2_Translation_Start_Site|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V108M|GRM4_uc003oiq.2_Missense_Mutation_p.V115M|GRM4_uc011dsm.1_Missense_Mutation_p.V79M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	248	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCGATGCACACGCCCCCTGCA	0.642			NA											6	51					0	0	0.00308	0	0
GFRAL	389400	broad.mit.edu	37	6	55196548	55196548	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:55196548C>A	uc003pcm.1	+	2	144	c.58C>A	c.(58-60)CAA>AAA	p.Q20K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	20	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACACTTCCCAAACCAATAA	0.348			NA											3	31					6.4e-05	7.28615e-05	0.004672	1	0
EYS	346007	broad.mit.edu	37	6	66204723	66204723	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:66204723C>A	uc011dxu.1	-	4	1119	c.581G>T	c.(580-582)TGG>TTG	p.W194L	EYS_uc003peq.2_Missense_Mutation_p.W194L|EYS_uc003per.1_Missense_Mutation_p.W194L|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	194	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TGTCTTGCTCCAAGCTTCACT	0.418			NA											5	20					3.59834e-05	4.19334e-05	0.001168	1	0
STXBP5	134957	broad.mit.edu	37	6	147581750	147581750	+	Splice_Site	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:147581750G>T	uc003qlz.2	+	5	593	c.432_splice	c.e5-1	p.R144_splice	STXBP5_uc010khz.1_Splice_Site_p.R144_splice|STXBP5_uc003qlx.2_Splice_Site|STXBP5_uc003qly.2_Splice_Site	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTCTCTTGCAGGGTTACATTT	0.353			NA											7	32					0.00198382	0.00211227	0.001984	1	0
PDE1C	5137	broad.mit.edu	37	7	31862712	31862712	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:31862712C>T	uc003tcm.1	-	14	2026	c.1557G>A	c.(1555-1557)GAG>GAA	p.E519E	PDE1C_uc003tcn.1_Silent_p.E519E|PDE1C_uc003tco.1_Silent_p.E579E|PDE1C_uc003tcr.2_Silent_p.E519E|PDE1C_uc003tcs.2_Silent_p.E519E	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	519	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCCTCCATCTCTCCCGATTGA	0.468			NA											12	136					0	0	0.003163	0	0
BMPER	168667	broad.mit.edu	37	7	34125511	34125511	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:34125511G>T	uc011kap.1	+	13	1666	c.1552G>T	c.(1552-1554)GAT>TAT	p.D518Y		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	518	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						CTTCAAGTTTGATGTGGATGA	0.483			NA											17	72					3.32936e-07	4.03889e-07	0.006122	1	0
CAMK2B	816	broad.mit.edu	37	7	44298523	44298523	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:44298523G>A	uc003tkq.2	-	4	433	c.223C>T	c.(223-225)CGT>TGT	p.R75C	CAMK2B_uc003tkp.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R75C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R75C|CAMK2B_uc003tks.2_Missense_Mutation_p.R75C|CAMK2B_uc003tku.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R75C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R75C	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	75	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TCGTGGAGACGCACTGTGGGG	0.612			NA											8	13					0	0	0.004482	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658037	72658037	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:72658037A>G	uc003txs.1	-	13	1875	c.947T>C	c.(946-948)CTC>CCC	p.L316P	FKBP6_uc003twz.2_Intron	NR_002164				RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;												0						gtagtacaggaggctaccata	0			NA											8	70					0	0	0.006214	0	0
MET	4233	broad.mit.edu	37	7	116412044	116412044	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:116412044G>A	uc003vij.2	+	14	3215	c.3028_splice	c.e14+1	p.D1010_splice	MET_uc010lkh.2_Splice_Site_p.D1028_splice|MET_uc011knj.1_Splice_Site_p.D580_splice	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(4)|p.?(2)		upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCCAGAAGGTATATTTCAG	0.343			NA	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				8	22					0	0	0.004482	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672764	141672764	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:141672764G>T	uc003vwx.1	-	1	810	c.726C>A	c.(724-726)CAC>CAA	p.H242Q		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	242	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					GGGCTTTAATGTGGGCCTCCA	0.507			NA											16	50					2.31682e-05	2.72135e-05	0.003163	1	0
OR2F1	26211	broad.mit.edu	37	7	143657663	143657663	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:143657663G>T	uc003wds.1	+	1	644	c.600G>T	c.(598-600)ATG>ATT	p.M200I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	200	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TCACCATCATGGTGTCTAGCA	0.473			NA											19	74					8.34094e-07	9.95531e-07	0.008871	1	0
DEFA4	1669	broad.mit.edu	37	8	6793542	6793542	+	Nonstop_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:6793542T>A	uc003wqu.1	-	3	345	c.294A>T	c.(292-294)TAA>TAT	p.*98Y		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	98					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGCAGAACGTTAATCGACAC	0.488			NA											13	93					0	0	0.003163	0	0
WRN	7486	broad.mit.edu	37	8	30938527	30938527	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:30938527A>T	uc003xio.3	+	9	1772	c.984A>T	c.(982-984)GTA>GTT	p.V328V	WRN_uc011lbd.1_Silent_p.V31V|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	328					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGGGGGAGTACAACAGAAAC	0.368	Ovarian(18;161 598 2706 14834 27543)		NA	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				6	37					0	0	0.001984	0	0
PREX2	80243	broad.mit.edu	37	8	69021837	69021837	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:69021837T>C	uc003xxv.1	+	25	3152	c.3125T>C	c.(3124-3126)ATG>ACG	p.M1042T	PREX2_uc011lez.1_Missense_Mutation_p.M977T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1042					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAGGTGGAGATGTGTGTTTGT	0.363			NA											12	37					0	0	0.013537	0	0
C8orf34	116328	broad.mit.edu	37	8	69351791	69351791	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:69351791G>A	uc010lyz.2	+	2	176	c.127G>A	c.(127-129)GAC>AAC	p.D43N	C8orf34_uc010lyx.1_Missense_Mutation_p.D43N|C8orf34_uc010lyy.1_Missense_Mutation_p.D43N|C8orf34_uc003xyb.2_Missense_Mutation_p.D18N	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	43					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATTTCTCATTGACCATCTTCA	0.388			NA											4	29					0	0	0.000602	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814552	106814552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:106814552G>T	uc003ymd.2	+	8	2265	c.2242G>T	c.(2242-2244)GAG>TAG	p.E748*	ZFPM2_uc011lhs.1_Nonsense_Mutation_p.E479*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	748					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGCCTACCTGAGCAGGAACA	0.522			NA											4	23					0.00024832	0.000276326	0.009096	1	0
TRIB1	10221	broad.mit.edu	37	8	126445584	126445584	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:126445584A>T	uc003yrx.2	+	2	968	c.386A>T	c.(385-387)GAC>GTC	p.D129V	TRIB1_uc011lis.1_5'UTR|TRIB1_uc010mdn.2_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	129	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CACTACCAGGACAAAATCAGG	0.512			NA											30	245					0	0	0.003271	0	0
DOCK8	81704	broad.mit.edu	37	9	371489	371489	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:371489C>T	uc003zgf.2	+	17	2042	c.1930C>T	c.(1930-1932)CAC>TAC	p.H644Y	DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.H576Y|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Missense_Mutation_p.H102Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	644					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTAAATCACCACCTCCTGTT	0.438			NA											5	65					0	0	0.001168	0	0
LOC442421	442421	broad.mit.edu	37	9	66499891	66499891	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:66499891T>C	uc004aee.1	+	1	701	c.701T>C	c.(700-702)ATG>ACG	p.M234T	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						ACCATCGCCATGTACATGAAG	0.572			NA											4	23					0	0	0.013537	0	0
LOC442421	442421	broad.mit.edu	37	9	66499904	66499904	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:66499904C>T	uc004aee.1	+	1	714	c.714C>T	c.(712-714)GGC>GGT	p.G238G	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						ACATGAAGGGCGGGTAACCTG	0.542			NA											6	19					0	0	0.001855	0	0
COL15A1	1306	broad.mit.edu	37	9	101787221	101787221	+	Silent	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:101787221T>A	uc004azb.1	+	15	2126	c.1920T>A	c.(1918-1920)GTT>GTA	p.V640V		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	640	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GAACTGATGTTTTCATGGGAC	0.567			NA											11	45					0	0	0.008291	0	0
OR1K1	392392	broad.mit.edu	37	9	125562995	125562995	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:125562995G>A	uc011lze.1	+	1	594	c.594G>A	c.(592-594)CTG>CTA	p.L198L		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACATCCAGCTGCTCATCTTCA	0.617			NA											13	78					0	0	0.001855	0	0
C9orf116	138162	broad.mit.edu	37	9	138391685	138391685	+	Missense_Mutation	SNP	A	A	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:138391685A>C	uc004cft.1	-	1	77	c.13T>G	c.(13-15)TGC>GGC	p.C5G	C9orf116_uc004cfs.1_Missense_Mutation_p.C5G|C9orf116_uc004cfu.1_RNA|MRPS2_uc004cfv.3_5'Flank|MRPS2_uc004cfw.3_5'Flank|MRPS2_uc004cfx.3_5'Flank|MRPS2_uc010nat.2_5'Flank	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	5											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706			NA											2	12					0	0	0.004672	0	0
ASMT	438	broad.mit.edu	37	X	1746614	1746614	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:1746614C>T	uc004cqd.2	+	5	538	c.393C>T	c.(391-393)TAC>TAT	p.Y131Y	ASMT_uc010ncy.2_Silent_p.Y131Y|ASMT_uc004cqe.2_Silent_p.Y131Y	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	131					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACCAGTACCTGGAGACGT	0.313			NA											15	157					0	0	0.00245	0	0
FAM9A	171482	broad.mit.edu	37	X	8759376	8759376	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:8759376A>T	uc004csg.2	-	9	1086	c.975T>A	c.(973-975)AGT>AGA	p.S325R		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	325						nucleolus					0		Hepatocellular(5;0.219)				CACTTTCTTCACTGGAAGAAA	0.343			NA											4	24					0	0	0.009096	0	0
SRPX	8406	broad.mit.edu	37	X	38020261	38020261	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:38020261C>A	uc004ddy.1	-	6	786	c.700G>T	c.(700-702)GAC>TAC	p.D234Y	SRPX_uc004ddz.1_Missense_Mutation_p.D214Y|SRPX_uc011mkh.1_Missense_Mutation_p.D175Y|SRPX_uc011mki.1_Missense_Mutation_p.D234Y	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	234	HYR.				cell adhesion	cell surface|membrane					0						ATCTTGTGGTCTCCTTCTGGA	0.418			NA											8	52					0.000157383	0.00017646	0.00308	1	0
DGKK	139189	broad.mit.edu	37	X	50213490	50213491	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:50213490_50213491GG>TT	uc010njr.1	-	1	247_248	c.187_188CC>AA	c.(187-189)CCA>AAA	p.P63K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	63	4.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ACAGGGACCTGGAGCAAGCTCT	0.297			NA											12	137					0	0	0.004672	0	0
ERCC6L	54821	broad.mit.edu	37	X	71424945	71424945	+	Silent	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:71424945A>G	uc004eaq.1	-	2	3769	c.3672T>C	c.(3670-3672)GTT>GTC	p.V1224V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.V1101V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1224	TPR 2.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					CAAGCGCTTTAACTAAGCAGT	0.373			NA											4	45					0	0	0.009096	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177188	89177188	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:89177188G>T	uc004efe.2	+	2	153	c.104G>T	c.(103-105)AGA>ATA	p.R35I		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						ATCATGTCGAGAAATAACGCA	0.582			NA											10	42					2.80697e-09	3.61245e-09	0.010729	1	0
TRPC5	7224	broad.mit.edu	37	X	111195485	111195485	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:111195485G>T	uc004epl.1	-	2	1083	c.164C>A	c.(163-165)GCT>GAT	p.A55D	TRPC5_uc004epm.1_Missense_Mutation_p.A55D	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	55	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GTAGATCTCAGCCTCCTGAAG	0.532			NA											7	91					8.12818e-05	9.18299e-05	0.001984	1	0
MAGEC2	51438	broad.mit.edu	37	X	141290803	141290803	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:141290803G>T	uc004fbu.1	-	3	1319	c.971C>A	c.(970-972)ACT>AAT	p.T324N		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	324	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGGAACAGTGTTGTTCAG	0.453			NA								HNSCC(46;0.14)			27	103					2.79863e-10	3.69819e-10	0.004656	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638205	149638205	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:149638205G>T	uc004fee.1	+	3	436	c.360G>T	c.(358-360)GCG>GCT	p.A120A	MAMLD1_uc011mxt.1_Silent_p.A82A|MAMLD1_uc011mxu.1_Silent_p.A95A|MAMLD1_uc011mxv.1_Silent_p.A95A|MAMLD1_uc011mxw.1_Silent_p.A47A	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	120					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCGGCTATGGGAG	0.512			NA											14	104					2.62699e-14	3.56692e-14	0.003163	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303721	151303721	+	Silent	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151303721T>C	uc004ffk.2	-	5	780	c.372A>G	c.(370-372)CCA>CCG	p.P124P	MAGEA10_uc004ffl.2_Silent_p.P124P	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	124											0	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTGTCTGGCAGGACCT	0.502			NA											18	149					0	0	0.006122	0	0
GABRQ	55879	broad.mit.edu	37	X	151815621	151815621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151815621C>A	uc004ffp.1	+	4	539	c.519C>A	c.(517-519)TAC>TAA	p.Y173*		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	173	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTGCGGTACGGCATCCGGT	0.517			NA											5	49					5.9392e-07	7.14635e-07	0.001168	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900386	151900386	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151900386C>T	uc010ntp.2	-	3	769	c.415G>A	c.(415-417)GTC>ATC	p.V139I	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.V139I|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	139	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTGATGACACTCCCCAGC	0.502			NA											16	181					0	0	0.00499	0	0
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:88512304_88512305insT	uc001tar.2	-	17	2010_2011	c.1666_1667insA	c.(1666-1668)ATTfs	p.I556fs	CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	556	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATTTGACGAATTTTTTTTTTC	0.312			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
SPRY2	10253	broad.mit.edu	37	13	80911047	80911048	+	In_Frame_Ins	INS	-	-	TTT			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:80911047_80911048insTTT	uc001vli.2	-	2	1771_1772	c.793_794insAAA	c.(793-795)TGT>TAAAGT	p.265_265C>*S	SPRY2_uc001vlj.2_In_Frame_Ins_p.265_265C>*S	NM_005842	NP_005833	O43597	SPY2_HUMAN	sprouty 2	265	SPR.|Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			ovary(1)|lung(1)	2	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		ACACCATAAACAAGGCAAAAAG	0.49			NA											10	62	---	---	---	---	NA	NA	NA	NA	NA
IRX3	79191	broad.mit.edu	37	16	54319061	54319062	+	Frame_Shift_Ins	INS	-	-	C	rs140590187		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:54319061_54319062insC	uc002eht.1	-	2	1147_1148	c.731_732insG	c.(730-732)GGCfs	p.G244fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	244	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgtcagccaggccctcgccccc	0.307	GBM(143;1830 1866 4487 4646 37383)		NA											4	9	---	---	---	---	NA	NA	NA	NA	NA
