Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:1120451C>A	uc001acy.2	+	13	1514	c.1363C>A	c.(1363-1365)CGG>AGG	p.R455R	TTLL10_uc010nyg.1_Silent_p.R455R|TTLL10_uc001acz.1_Silent_p.R382R	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612		NA											14	14					9.31e-06	2e-05	1	0
FPGT	8790	broad.mit.edu	37	1	74670983	74670983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:74670983G>T	uc001dgb.1	+	4	1289	c.1252G>T	c.(1252-1254)GTT>TTT	p.V418F	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.V43F|FPGT_uc010oqu.1_Missense_Mutation_p.V164F|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	418					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						ACCTGGCTCAGTTGTGGAGTA	0.433		NA											44	52					9.39e-22	2.37e-21	1	0
NEXN	91624	broad.mit.edu	37	1	78390878	78390878	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:78390878G>A	uc001dic.3	+	6	750	c.453G>A	c.(451-453)GAG>GAA	p.E151E	NEXN_uc001dia.3_Intron|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Silent_p.E87E|NEXN_uc001did.1_Intron|NEXN_uc001dif.1_Silent_p.E43E	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	151	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AATAGATTGAGGACATAAACA	0.289		NA											4	9					0	0	0	0
VAV3	10451	broad.mit.edu	37	1	108247231	108247231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:108247231G>A	uc001dvk.1	-	17	1700	c.1646C>T	c.(1645-1647)GCG>GTG	p.A549V	VAV3_uc010ouw.1_Missense_Mutation_p.A549V|VAV3_uc001dvl.1_Missense_Mutation_p.A373V|VAV3_uc010oux.1_Missense_Mutation_p.A549V	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	549	Phorbol-ester/DAG-type.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTGTGCTCTCGCTCCACACTT	0.358		NA											19	26					0	0	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504234	117504234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:117504234G>T	uc001egv.1	+	5	1720	c.1583G>T	c.(1582-1584)TGG>TTG	p.W528L		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	528	Extracellular (Potential).|Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AACAACAGCTGGGTGAAAAGC	0.413		NA											19	26					1.45e-14	3.56e-14	1	0
ANP32E	81611	broad.mit.edu	37	1	150202958	150202958	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:150202958T>G	uc001etw.2	-	3	645	c.275A>C	c.(274-276)TAC>TCC	p.Y92S	ANP32E_uc010pbu.1_Missense_Mutation_p.Y44S|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.Y92S|ANP32E_uc010pbw.1_Missense_Mutation_p.Y92S	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	92	LRR 4.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATTGAGGTAGGTAAGATT	0.358		NA											4	43					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152278933	152278933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278933C>A	uc001ezu.1	-	3	8465	c.8429G>T	c.(8428-8430)GGA>GTA	p.G2810V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2810	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)			CCCTGAGTGTCCAGAGCTATC	0.577		NA							Ichthyosis				65	468					1.77e-58	4.59e-58	1	0
LCE3A	353142	broad.mit.edu	37	1	152595358	152595358	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152595358C>T	uc010pdt.1	-	1	222	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	74					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCGCCTTGCTGACCACTTC	0.567		NA											15	108					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157557331	157557331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157557331C>A	uc001fqw.2	-	5	718	c.582G>T	c.(580-582)GAG>GAT	p.E194D	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	194	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TAGCTTTCAGCTCTGGATGTG	0.483		NA											13	125					0.000151284	0.000311905	1	0
FCRL2	79368	broad.mit.edu	37	1	157740241	157740241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157740241G>A	uc001fre.2	-	3	327	c.268C>T	c.(268-270)CTC>TTC	p.L90F	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.L90F|FCRL2_uc009wsp.2_Missense_Mutation_p.L90F|FCRL2_uc010pia.1_Missense_Mutation_p.L90F	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	90	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCCCAGAGAAAGAGTTGT	0.403		NA											14	62					0	0	0	0
ATF6	22926	broad.mit.edu	37	1	161789450	161789450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:161789450A>G	uc001gbr.2	+	8	1004	c.937A>G	c.(937-939)ATG>GTG	p.M313V	ATF6_uc001gbq.1_Missense_Mutation_p.M313V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	313	Basic motif.|Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACAGCAACGTATGATAAAAAA	0.368		NA											4	54					0	0	0	0
MGST3	4259	broad.mit.edu	37	1	165624685	165624686	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624685_165624686CA>AT	uc001gdf.2	+	6	491_492	c.403_404CA>AT	c.(403-405)CAG>ATG	p.Q135M	MGST3_uc001gdg.2_Missense_Mutation_p.Q149M	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135	Helical; (Potential).				leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCTGCTTTCCAGCATCTTGGT	0.47		NA											12	34					0	0	0	0
C1orf114	57821	broad.mit.edu	37	1	169390781	169390781	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169390781G>C	uc001gga.1	-	3	1056	c.888C>G	c.(886-888)CTC>CTG	p.L296L	C1orf114_uc001gfz.1_Silent_p.L296L|C1orf114_uc009wvq.1_Silent_p.L296L|C1orf114_uc001ggb.2_Silent_p.L296L|C1orf114_uc001ggc.1_Silent_p.L296L	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	296											0	all_hematologic(923;0.208)					TCTTGCGGTTGAGTGGTGGCT	0.478		NA											45	117					0	0	0	0
F5	2153	broad.mit.edu	37	1	169512317	169512317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169512317T>C	uc001ggg.1	-	13	2156	c.2011A>G	c.(2011-2013)AGA>GGA	p.R671G		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	671	Plastocyanin-like 4.|F5/8 type A 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTTGCTTCTTGGACTAGAA	0.383		NA											19	52					0	0	0	0
FAM5C	339479	broad.mit.edu	37	1	190423907	190423907	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:190423907C>T	uc001gse.1	-	2	346	c.114G>A	c.(112-114)CAG>CAA	p.Q38Q	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	38						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TTGTGGCATGCTGATCCGAAA	0.517		NA											13	31					0	0	0	0
F13B	2165	broad.mit.edu	37	1	197024991	197024991	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197024991A>T	uc001gtt.1	-	8	1252	c.1208T>A	c.(1207-1209)ATG>AAG	p.M403K		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	403	Sushi 7.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AGCCCCATTCATTACAACAGG	0.343		NA											4	56					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197071613	197071613	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197071613T>A	uc001gtu.2	-	18	7025	c.6768A>T	c.(6766-6768)AGA>AGT	p.R2256S	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.R104S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2256	IQ 20.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTAAATGTCTTCTAGCTTTCT	0.348		NA											25	127					0	0	0	0
FAM58B	339521	broad.mit.edu	37	1	200183360	200183360	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200183360G>C	uc009wzi.1	+	1	705	c.669G>C	c.(667-669)CAG>CAC	p.Q223H		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	223					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TGTGGTGGCAGGCGTTTAGTG	0.547		NA											16	75					0	0	0	0
KIF14	9928	broad.mit.edu	37	1	200522870	200522870	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200522870G>A	uc010ppk.1	-	30	5032	c.4593C>T	c.(4591-4593)CTC>CTT	p.L1531L	KIF14_uc010ppj.1_Silent_p.L1040L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1531	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CACAAGTCTGGAGAAGATTTA	0.383		NA											15	54					0	0	0	0
CR1	1378	broad.mit.edu	37	1	207755303	207755303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:207755303G>T	uc001hfy.2	+	24	4047	c.3907G>T	c.(3907-3909)GTT>TTT	p.V1303F	CR1_uc009xcl.1_Missense_Mutation_p.V853F|CR1_uc001hfx.2_Missense_Mutation_p.V1753F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1303	Sushi 20.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTGTGTCTTGGTTGGAATGAG	0.408		NA											23	76					2.42e-17	6.03e-17	1	0
KCNH1	3756	broad.mit.edu	37	1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:211192294C>T	uc001hib.2	-	6	1033	c.863G>A	c.(862-864)CGC>CAC	p.R288H	KCNH1_uc001hic.2_Missense_Mutation_p.R288H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	288	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448		NA											31	97					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171271	214171271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:214171271C>A	uc001hkh.2	+	2	1665	c.1393C>A	c.(1393-1395)CAC>AAC	p.H465N	PROX1_uc001hkg.1_Missense_Mutation_p.H465N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	465					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCAGCCCCTGCACCAGTCGCC	0.632		NA											15	144					7.93e-07	1.75e-06	1	0
USH2A	7399	broad.mit.edu	37	1	216258196	216258196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:216258196C>A	uc001hku.1	-	25	5398	c.5011G>T	c.(5011-5013)GGC>TGC	p.G1671C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1671	Laminin G-like 1.|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)		TTGAGACAGCCCACAAAACCT	0.323		NA								HNSCC(13;0.011)			27	78					4.78e-09	1.11e-08	1	0
DISP1	84976	broad.mit.edu	37	1	223116610	223116610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:223116610C>T	uc001hnu.1	+	2	592	c.445C>T	c.(445-447)CTG>TTG	p.L149L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	149					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		ATCCTTCTGCCTGCATCATCC	0.473		NA											24	85					0	0	0	0
TRIM67	440730	broad.mit.edu	37	1	231333150	231333150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:231333150G>C	uc009xfn.1	+	2	1120	c.1078G>C	c.(1078-1080)GAT>CAT	p.D360H		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	360	Potential.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGTTTCAGATAAGGCAAA	0.408		NA											25	60					0	0	0	0
FMN2	56776	broad.mit.edu	37	1	240371752	240371752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:240371752G>T	uc010pyd.1	+	5	3865	c.3640G>T	c.(3640-3642)GGT>TGT	p.G1214C	FMN2_uc010pye.1_Missense_Mutation_p.G1218C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1214	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCTTGCCAGGTATGGGGAT	0.647		NA											6	25					8.13e-05	0.000168647	1	0
KIF26B	55083	broad.mit.edu	37	1	245848773	245848773	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:245848773C>T	uc001ibf.1	+	12	2928	c.2488C>T	c.(2488-2490)CTG>TTG	p.L830L	KIF26B_uc001ibg.1_Silent_p.L448L|KIF26B_uc001ibh.1_Silent_p.L72L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	830					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCACCCAGCTGAGACCCTT	0.642		NA											10	42					0	0	0	0
OR2T11	127077	broad.mit.edu	37	1	248789867	248789867	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:248789867T>A	uc001ier.1	-	1	563	c.563A>T	c.(562-564)GAC>GTC	p.D188V		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGGACGTGTCTGCACAGGC	0.478		NA											32	30					0	0	0	0
KIN	22944	broad.mit.edu	37	10	7808047	7808047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:7808047C>G	uc001ijt.2	-	9	866	c.818G>C	c.(817-819)AGA>ACA	p.R273T	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.R273T|KIN_uc010qba.1_Missense_Mutation_p.R167T	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	273	Potential.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCGGGCAGTTCTTTTCTTTTC	0.328		NA											6	42					0	0	0	0
ITGA8	8516	broad.mit.edu	37	10	15688977	15688977	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:15688977G>T	uc001ioc.1	-	12	1075	c.1075C>A	c.(1075-1077)CAA>AAA	p.Q359K	ITGA8_uc010qcb.1_Missense_Mutation_p.Q344K	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	359	Extracellular (Potential).|FG-GAP 5.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						AGGTAGATTTGCCCTACTTCT	0.502		NA											18	101					5.04e-11	1.2e-10	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24896427	24896427	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:24896427C>T	uc001isb.2	-	11	3171	c.2684_splice	c.e11+1	p.L895_splice	ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.L895_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.L730_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CCGAGACTTACAATTTTGCAT	0.388		NA											7	73					0	0	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508752	37508752	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:37508752A>T	uc001iza.1	+	34	4043	c.3944A>T	c.(3943-3945)GAG>GTG	p.E1315V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAGAAAAATGAGGAGATATTT	0.274		NA											5	12					0	0	0	0
C10orf71	118461	broad.mit.edu	37	10	50532083	50532083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:50532083G>C	uc010qgp.1	+	3	1832	c.1493G>C	c.(1492-1494)AGC>ACC	p.S498T		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	498											0						AAAGCCCCTAGCCTGCTGTTC	0.512		NA											4	20					0	0	0	0
TET1	80312	broad.mit.edu	37	10	70450631	70450631	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70450631G>T	uc001jok.3	+	12	5976	c.5471G>T	c.(5470-5472)AGT>ATT	p.S1824I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1824					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						ATCTTAAAAAGTTCAGACAAC	0.453		NA											14	68					9.31e-06	2e-05	1	0
SRGN	5552	broad.mit.edu	37	10	70847958	70847958	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70847958T>C	uc001joz.2	+	1	131	c.45T>C	c.(43-45)CTT>CTC	p.L15L	SRGN_uc001jpa.1_RNA	NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	15					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						TCCTGGCTCTTGCCCTCATCC	0.493		NA											17	69					0	0	0	0
ANXA11	311	broad.mit.edu	37	10	81915641	81915641	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:81915641T>A	uc001kbq.1	-	17	2311	c.1486A>T	c.(1486-1488)ATT>TTT	p.I496F	ANXA11_uc010qlx.1_Missense_Mutation_p.I596F|ANXA11_uc001kbr.1_Missense_Mutation_p.I496F|ANXA11_uc001kbs.1_Missense_Mutation_p.I496F|ANXA11_uc001kbt.1_Missense_Mutation_p.I496F|ANXA11_uc010qly.1_Missense_Mutation_p.I463F|ANXA11_uc009xsq.1_Missense_Mutation_p.I500F|ANXA11_uc001kbu.1_Missense_Mutation_p.I496F	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	496	Annexin 4.				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCAGCAGAATCTTCCGGTAA	0.517		NA											36	117					0	0	0	0
SLC16A12	387700	broad.mit.edu	37	10	91193071	91193071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:91193071T>A	uc001kgm.2	-	8	1602	c.1211A>T	c.(1210-1212)GAT>GTT	p.D404V	SLC16A12_uc001kgl.2_Missense_Mutation_p.D76V	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	solute carrier family 16 (monocarboxylic acid	404	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			skin(1)	1						GCCGGTGGTATCTACCAGCCG	0.368		NA											8	31					0	0	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916167	97916167	+	Silent	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:97916167A>C	uc001klp.2	+	6	945	c.88A>C	c.(88-90)AGG>CGG	p.R30R	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Silent_p.R30R|ZNF518A_uc001klr.2_Silent_p.R30R	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GATAGTTGATAGGTCGGCACC	0.279		NA											11	49					0	0	0	0
SEC31B	25956	broad.mit.edu	37	10	102267289	102267289	+	Silent	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:102267289T>A	uc001krc.1	-	7	777	c.675A>T	c.(673-675)ATA>ATT	p.I225I	SEC31B_uc010qpo.1_Silent_p.I224I|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Intron|SEC31B_uc010qpp.1_Silent_p.I228I|SEC31B_uc009xwn.1_Silent_p.I225I|SEC31B_uc009xwo.1_Silent_p.I225I|SEC31B_uc010qpq.1_Silent_p.I68I|SEC31B_uc010qpr.1_RNA	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	225	WD 4.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTGGGTGGCTATGTCAGGAT	0.557		NA											18	58					0	0	0	0
NEURL	9148	broad.mit.edu	37	10	105349976	105349976	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:105349976C>T	uc001kxh.2	+	6	1982	c.1572C>T	c.(1570-1572)TGC>TGT	p.C524C	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	524	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)		GCACCATTTGCTATGAACACG	0.632		NA											14	75					0	0	0	0
MXI1	4601	broad.mit.edu	37	10	112039820	112039820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:112039820C>T	uc001kza.2	+	5	707	c.500C>T	c.(499-501)TCA>TTA	p.S167L	MXI1_uc001kyy.2_Missense_Mutation_p.S234L|MXI1_uc001kyz.2_Missense_Mutation_p.S121L|MXI1_uc010qrc.1_Missense_Mutation_p.S157L|MXI1_uc009xxu.2_Missense_Mutation_p.S164L|MXI1_uc009xxv.2_RNA	NM_005962	NP_005953	P50539	MXI1_HUMAN	MAX interactor 1 isoform a	167					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTATTTCTTCAGATCGTTCT	0.448		NA											9	43					0	0	0	0
TECTB	6975	broad.mit.edu	37	10	114053774	114053774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:114053774C>T	uc001kzr.1	+	6	626	c.626C>T	c.(625-627)TCG>TTG	p.S209L		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	209	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCCACCCCCTCGGCTGACTTC	0.468		NA											19	44					0	0	0	0
VAX1	11023	broad.mit.edu	37	10	118896129	118896129	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:118896129G>A	uc009xyx.2	-	2	528	c.283C>T	c.(283-285)CTG>TTG	p.L95L	VAX1_uc001ldb.1_Silent_p.L95L	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	95						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		TCCAAGTCCAGGCCCTTGGGC	0.657		NA											17	57					0	0	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123730454	123730454	+	Silent	SNP	T	T	A	rs139294636	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:123730454T>A	uc001lfs.2	-	3	531	c.501A>T	c.(499-501)CTA>CTT	p.L167L	NSMCE4A_uc009xzv.2_Silent_p.L167L|NSMCE4A_uc001lft.2_Silent_p.L8L|NSMCE4A_uc010qtu.1_Silent_p.L8L|NSMCE4A_uc001lfu.1_Silent_p.L167L	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A	167											0		all_neural(114;0.138)|Glioma(114;0.222)				TTGAACTTACTAGAGTTTCAA	0.358		NA											5	19					0	0	0	0
PTDSS2	81490	broad.mit.edu	37	11	489914	489914	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:489914T>C	uc001lpj.2	+	11	1323	c.1147T>C	c.(1147-1149)TGG>CGG	p.W383R		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	383	Helical; (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCCGCAGGCCTGGCTGGTGGC	0.692		NA											5	17					0	0	0	0
HBD	3045	broad.mit.edu	37	11	5255583	5255583	+	Missense_Mutation	SNP	C	C	A	rs34289459		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5255583C>A	uc001maf.1	-	1	276	c.81G>T	c.(79-81)GAG>GAT	p.E27D		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	27					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCAGGGCCTCACCACCAA	0.517		NA											28	67					3.8e-20	9.55e-20	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443979	5443979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5443979C>A	uc010qzd.1	+	1	549	c.549C>A	c.(547-549)CAC>CAA	p.H183Q	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCTCCACCAGGATATGA	0.512		NA											51	168					2.75e-27	6.99e-27	1	0
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5602224C>G	uc010qzi.1	+	1	118	c.118C>G	c.(118-120)CTG>GTG	p.L40V	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	40	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507		NA											7	59					0	0	0	0
ILK	3611	broad.mit.edu	37	11	6629415	6629415	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6629415C>A	uc001mee.2	+	3	364	c.229C>A	c.(229-231)CAT>AAT	p.H77N	ILK_uc001mef.2_Missense_Mutation_p.H77N|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Missense_Mutation_p.H77N|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Missense_Mutation_p.H77N|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	77	Interaction with LIMS1.|ANK 3.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGCAGCCAGTCATGGACACCG	0.527		NA											8	74					2.18e-05	4.62e-05	1	0
DCHS1	8642	broad.mit.edu	37	11	6662065	6662065	+	Silent	SNP	G	G	A	rs144400127		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662065G>A	uc001mem.1	-	2	1190	c.780C>T	c.(778-780)TAC>TAT	p.Y260Y		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	260	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAGCATGGTAGCGGCTCT	0.602		NA											16	113					0	0	0	0
DCHS1	8642	broad.mit.edu	37	11	6662629	6662629	+	Silent	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662629C>G	uc001mem.1	-	2	626	c.216G>C	c.(214-216)ACG>ACC	p.T72T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	72	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGAGCTGCCGTGCCTGCCG	0.632		NA											9	18					0	0	0	0
INSC	387755	broad.mit.edu	37	11	15262059	15262059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:15262059T>G	uc001mly.2	+	12	1647	c.1601T>G	c.(1600-1602)GTG>GGG	p.V534G	INSC_uc001mlz.2_Missense_Mutation_p.V487G|INSC_uc001mma.2_Missense_Mutation_p.V487G|INSC_uc010rcs.1_Missense_Mutation_p.V522G|INSC_uc001mmb.2_Missense_Mutation_p.V487G|INSC_uc001mmc.2_Missense_Mutation_p.V445G	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	534					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GCCGTGCTTGTGGCCTGCCTG	0.572		NA											3	32					0	0	0	0
ABCC8	6833	broad.mit.edu	37	11	17428485	17428485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:17428485C>T	uc001mnc.2	-	25	3238	c.3112G>A	c.(3112-3114)GAC>AAC	p.D1038N		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1038	ABC transmembrane type-1 2.|Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCGCTGTCGGTCCACTTG	0.652		NA											27	78					0	0	0	0
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:21135210G>T	uc001mqe.2	+	13	1529	c.1376G>T	c.(1375-1377)CGC>CTC	p.R459L	NELL1_uc001mqf.2_Missense_Mutation_p.R459L|NELL1_uc009yid.2_Missense_Mutation_p.R487L|NELL1_uc010rdo.1_Missense_Mutation_p.R402L|NELL1_uc010rdp.1_Missense_Mutation_p.R219L	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	459	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GGGTTATATCGCTGTGACTGT	0.398		NA											35	82					7.11e-15	1.75e-14	1	0
OR4C46	119749	broad.mit.edu	37	11	51515649	51515649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:51515649C>A	uc010ric.1	+	1	368	c.368C>A	c.(367-369)GCC>GAC	p.A123D		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	123	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CACTATGTGGCCATCTGCAAG	0.478		NA											33	112					1.63e-12	3.92e-12	1	0
OR5L2	26338	broad.mit.edu	37	11	55595286	55595286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:55595286C>A	uc001nhy.1	+	1	592	c.592C>A	c.(592-594)CTG>ATG	p.L198M		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GAATGAGACACTGCTGTTCCT	0.448		NA								HNSCC(27;0.073)			46	159					4.44e-20	1.11e-19	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409156	56409156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:56409156C>A	uc001njb.1	-	1	760	c.760G>T	c.(760-762)GTC>TTC	p.V254F		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AATATGGTGACAGCCATGAGG	0.458		NA											18	67					6.94e-10	1.63e-09	1	0
PRG2	5553	broad.mit.edu	37	11	57155327	57155327	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:57155327T>C	uc001njz.2	-	4	537	c.510A>G	c.(508-510)AGA>AGG	p.R170R	PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.R170R|PRG2_uc001nkb.2_Silent_p.R170R|PRG2_uc001nkd.2_Silent_p.R159R|PRG2_uc001nkc.2_Silent_p.R170R|PRG2_uc001nke.2_Silent_p.R450R	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	170	C-type lectin.				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	ACTGAAAGCGTCTGCAGCGAC	0.627		NA											7	13					0	0	0	0
OR4D10	390197	broad.mit.edu	37	11	59245073	59245073	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:59245073G>T	uc001nnz.1	+	1	171	c.171G>T	c.(169-171)ACG>ACT	p.T57T		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	57	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GCCTTCACACGCCCATGTATT	0.433		NA											38	157					2.19e-23	5.55e-23	1	0
USP35	57558	broad.mit.edu	37	11	77920009	77920009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:77920009G>T	uc009yva.1	+	9	1838	c.1592G>T	c.(1591-1593)CGG>CTG	p.R531L	USP35_uc001oze.2_Missense_Mutation_p.R287L|USP35_uc001ozc.2_Missense_Mutation_p.R99L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.R142L|USP35_uc001ozf.2_Missense_Mutation_p.R262L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	531					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)			CTGCTGGATCGGTAAGGGGGC	0.602		NA											9	77					1.13e-05	2.41e-05	1	0
PRCP	5547	broad.mit.edu	37	11	82571102	82571102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:82571102C>A	uc001ozs.2	-	2	339	c.226G>T	c.(226-228)GAT>TAT	p.D76Y	PRCP_uc001ozr.2_Missense_Mutation_p.D97Y	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	76					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						CAGTATTTATCAGCTACTAGG	0.323		NA											5	35					0.000602214	0.00121657	1	0
FAT3	120114	broad.mit.edu	37	11	92088407	92088407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:92088407C>A	uc001pdj.3	+	1	3146	c.3129C>A	c.(3127-3129)TTC>TTA	p.F1043L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1043	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCCTATTTCCCAGACTTTG	0.507		NA								TCGA Ovarian(4;0.039)			11	48					2.62e-11	6.26e-11	1	0
MMP20	9313	broad.mit.edu	37	11	102477389	102477389	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:102477389A>G	uc001phc.2	-	6	843	c.830T>C	c.(829-831)CTG>CCG	p.L277P		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	277					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGGCTTCCCCAGGAATACTTT	0.532		NA											16	64					0	0	0	0
SIK2	23235	broad.mit.edu	37	11	111593425	111593425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:111593425C>T	uc001plt.2	+	14	2210	c.2092C>T	c.(2092-2094)CAG>TAG	p.Q698*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	698					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						GAACACCTGTCAGCTTTATTG	0.502		NA											26	71					0	0	0	0
OR8D1	283159	broad.mit.edu	37	11	124180027	124180027	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124180027T>C	uc010sag.1	-	1	636	c.636A>G	c.(634-636)CTA>CTG	p.L212L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCAACAGCTAGGGTGGGCA	0.507		NA											11	27					0	0	0	0
ESAM	90952	broad.mit.edu	37	11	124632034	124632034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124632034C>A	uc001qav.3	-	1	190	c.17G>T	c.(16-18)GGG>GTG	p.G6V	ESAM_uc010sao.1_Missense_Mutation_p.G6V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G6V	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	6					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCAGGGGCCCCGGGAGGGA	0.697		NA											5	19					3.6e-05	7.56e-05	1	0
NTM	50863	broad.mit.edu	37	11	132016211	132016211	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:132016211G>T	uc001qgp.2	+	2	867	c.203G>T	c.(202-204)TGG>TTG	p.W68L	NTM_uc001qgm.2_Missense_Mutation_p.W68L|NTM_uc010sch.1_Missense_Mutation_p.W59L|NTM_uc010sci.1_Missense_Mutation_p.W68L|NTM_uc010scj.1_Missense_Mutation_p.W27L|NTM_uc001qgo.2_Missense_Mutation_p.W68L|NTM_uc001qgq.2_Missense_Mutation_p.W68L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	68	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						CGGGTGGCCTGGCTAAACCGC	0.577		NA											13	40					7.93e-07	1.75e-06	1	0
LRP6	4040	broad.mit.edu	37	12	12334103	12334103	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:12334103T>C	uc001rah.3	-	6	1389	c.1247A>G	c.(1246-1248)AAT>AGT	p.N416S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.N416S	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	416	Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CCAATAAAGATTTCGTGCAAC	0.478		NA											13	130					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018732	14018732	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:14018732C>T	uc001rbt.2	-	2	590	c.411G>A	c.(409-411)AAG>AAA	p.K137K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	137	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTTTTTACCTTATCTGCCA	0.493		NA											123	142					0	0	0	0
H3F3C	440093	broad.mit.edu	37	12	31944920	31944920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:31944920G>A	uc001rkr.2	-	1	256	c.181C>T	c.(181-183)CTC>TTC	p.L61F		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	61					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TTCCGGATGAGCAGCTCGGTC	0.602		NA								HNSCC(67;0.2)			32	52					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49420184	49420184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49420184C>T	uc001rta.3	-	48	15565	c.15565G>A	c.(15565-15567)GGA>AGA	p.G5189R		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5189	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCAGCTGTCCGATGGCGTGG	0.592		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			6	27					0	0	0	0
KRT73	319101	broad.mit.edu	37	12	53011886	53011886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:53011886G>C	uc001sas.2	-	1	458	c.423C>G	c.(421-423)AAC>AAG	p.N141K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGAACTTGTTGTTCAGCA	0.547		NA											33	96					0	0	0	0
ITGA7	3679	broad.mit.edu	37	12	56092549	56092549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:56092549G>C	uc001shh.2	-	6	1175	c.955C>G	c.(955-957)CGC>GGC	p.R319G	ITGA7_uc001shg.2_Missense_Mutation_p.R315G|ITGA7_uc010sps.1_Missense_Mutation_p.R222G|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.R202G	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	359	FG-GAP 5.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GAGGTCAGGCGCTCCCCAGAC	0.652		NA											8	48					0	0	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791671	76791671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:76791671C>T	uc001sye.1	-	8	955	c.475G>A	c.(475-477)GGT>AGT	p.G159S	OSBPL8_uc001syf.1_Missense_Mutation_p.G117S|OSBPL8_uc001syg.1_Missense_Mutation_p.G117S|OSBPL8_uc001syh.1_Missense_Mutation_p.G134S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	159	PH.				lipid transport		lipid binding			ovary(1)	1						TTTAGAGTACCACGAATCTAC	0.358		NA											9	30					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719651	81719651	+	Splice_Site	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:81719651T>A	uc001szo.1	-	22	2710	c.2549_splice	c.e22-1	p.R850_splice	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6						TAAAGCCTCCTGTGAAGAGAA	0.423		NA											3	25					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:83290168C>G	uc001szt.2	+	3	1658	c.1226C>G	c.(1225-1227)ACG>AGG	p.T409R	TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	409	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GTTCCTGCCACGAACCTGTTT	0.418		NA											18	109					0	0	0	0
KERA	11081	broad.mit.edu	37	12	91449952	91449952	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:91449952G>C	uc001tbl.2	-	2	726	c.107C>G	c.(106-108)ACT>AGT	p.T36S		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	36	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						GTCATGAATAGTCCAATCATC	0.408		NA											5	40					0	0	0	0
ACTR6	64431	broad.mit.edu	37	12	100603865	100603865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:100603865G>T	uc001thb.1	+	5	450	c.394G>T	c.(394-396)GCA>TCA	p.A132S	ACTR6_uc001thc.1_Missense_Mutation_p.A24S|ACTR6_uc001thd.1_Missense_Mutation_p.A132S|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.A50S|ACTR6_uc001thf.1_Missense_Mutation_p.A50S|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	132						cytoplasm|cytoskeleton				ovary(1)	1						GGCTCTCAGTGCACATAGGTA	0.308		NA											8	56					5.18e-06	1.12e-05	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105428104	105428104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:105428104T>A	uc001tlc.2	-	19	2345	c.2218A>T	c.(2218-2220)ATC>TTC	p.I740F	ALDH1L2_uc009zuo.2_Missense_Mutation_p.I195F|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	740	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						TCGTCGTGGATGGATTCTTCC	0.418		NA											6	42					0	0	0	0
RIC8B	55188	broad.mit.edu	37	12	107254088	107254088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:107254088G>T	uc001tlx.2	+	8	1474	c.1349G>T	c.(1348-1350)GGA>GTA	p.G450V	RIC8B_uc001tlw.2_Missense_Mutation_p.G450V|RIC8B_uc001tly.2_Missense_Mutation_p.G410V|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	450					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						AATGCTGCAGGACTGTTGGCG	0.463		NA											12	41					7.04e-09	1.62e-08	1	0
RPH3A	22895	broad.mit.edu	37	12	113314582	113314582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113314582C>A	uc010syl.1	+	13	1444	c.1082C>A	c.(1081-1083)GCA>GAA	p.A361E	RPH3A_uc001ttz.2_Missense_Mutation_p.A361E|RPH3A_uc001tty.2_Missense_Mutation_p.A357E|RPH3A_uc009zwe.1_Missense_Mutation_p.A357E|RPH3A_uc010sym.1_Missense_Mutation_p.A312E|RPH3A_uc001tua.2_Missense_Mutation_p.A121E	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	361	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGCATCTGCAGCTGCCCCC	0.642		NA											8	49					0.000274275	0.000561037	1	0
IQCD	115811	broad.mit.edu	37	12	113645284	113645284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113645284C>T	uc001tuv.1	-	2	1110	c.688G>A	c.(688-690)GAA>AAA	p.E230K	IQCD_uc001tuu.2_Missense_Mutation_p.E230K	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	230										ovary(1)	1						AATTCCTTTTCAAGAGTATCA	0.383		NA											5	56					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135284	126135284	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:126135284T>C	uc001uhe.1	+	7	1692	c.1684T>C	c.(1684-1686)TCC>CCC	p.S562P	TMEM132B_uc001uhf.1_Missense_Mutation_p.S74P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	562	Extracellular (Potential).					integral to membrane		p.S562S(1)		skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACGAGGCTGCTCCCTGCAGTA	0.572		NA											11	42					0	0	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827590	130827590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:130827590A>T	uc001uik.2	+	3	224	c.134A>T	c.(133-135)GAA>GTA	p.E45V	PIWIL1_uc001uij.1_Missense_Mutation_p.E45V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	45					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGAGGGGGAATTATTTGGC	0.473		NA											6	31					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32812117	32812117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:32812117G>T	uc001utx.2	+	44	6908	c.6412G>T	c.(6412-6414)GCT>TCT	p.A2138S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCATCCCACGCTATTGGTAA	0.458		NA											16	74					6.94e-10	1.63e-09	1	0
STARD13	90627	broad.mit.edu	37	13	33701605	33701605	+	Silent	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:33701605C>G	uc001uuw.2	-	6	1953	c.1827G>C	c.(1825-1827)ACG>ACC	p.T609T	STARD13_uc001uuu.2_Silent_p.T601T|STARD13_uc001uuv.2_Silent_p.T491T|STARD13_uc001uux.2_Silent_p.T574T|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.T594T	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGGCTGGCCGTCTGGCTGC	0.632		NA											8	8					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39435695	39435695	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39435695A>T	uc001uwv.2	+	15	7956	c.7647A>T	c.(7645-7647)ATA>ATT	p.I2549I	FREM2_uc001uww.2_Silent_p.I635I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2549	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCACACATAGATGGTAGGT	0.423		NA											21	67					0	0	0	0
LCP1	3936	broad.mit.edu	37	13	46726918	46726918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:46726918C>T	uc001vaz.3	-	7	862	c.736G>A	c.(736-738)GAA>AAA	p.E246K	LCP1_uc001vba.3_Missense_Mutation_p.E246K	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	246	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTCTTACCTTCATTTCTGCTG	0.458		NA	T	BCL6	NHL 								9	34					0	0	0	0
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:20295661C>A	uc010tkv.1	+	1	54	c.54C>A	c.(52-54)ACC>ACA	p.T18T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383		NA											20	136					8.34e-07	1.84e-06	1	0
SLC7A8	23428	broad.mit.edu	37	14	23609700	23609700	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:23609700C>T	uc001wiz.2	-	5	1494	c.768G>A	c.(766-768)GAG>GAA	p.E256E	SLC7A8_uc001wix.2_Silent_p.E53E|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Silent_p.E151E|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Silent_p.E256E	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	256					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAACAAGCTCCTCAGTCACGT	0.532		NA											22	146					0	0	0	0
DHRS2	10202	broad.mit.edu	37	14	24108495	24108495	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:24108495A>G	uc001wkt.3	+	3	695	c.248A>G	c.(247-249)GAG>GGG	p.E83G	DHRS2_uc010aku.1_Missense_Mutation_p.E83G|DHRS2_uc001wku.3_Missense_Mutation_p.E83G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.E83G	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	61					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		CTGCAGGGGGAGGGGCTGAGT	0.687		NA											3	90					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30103722	30103722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:30103722G>T	uc001wqh.2	-	8	1397	c.1216C>A	c.(1216-1218)CTC>ATC	p.L406I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	406					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCTCATGAGTGGGATATTG	0.403		NA											25	140					6.33e-13	1.53e-12	1	0
INSM2	84684	broad.mit.edu	37	14	36003680	36003680	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:36003680G>T	uc001wth.1	+	1	433	c.222G>T	c.(220-222)GGG>GGT	p.G74G		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AACAGTCGGGGTCGCCATGTC	0.726		NA											9	4					0.000442599	0.000901105	1	0
SLC25A21	89874	broad.mit.edu	37	14	37283178	37283178	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:37283178G>T	uc001wtz.1	-	3	458	c.148C>A	c.(148-150)CCA>ACA	p.P50T		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	50	Solcar 1.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313		NA											8	58					0.000274275	0.000561037	1	0
C14orf142	84520	broad.mit.edu	37	14	93673339	93673339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:93673339T>A	uc001ybl.1	-	1	121	c.44A>T	c.(43-45)CAG>CTG	p.Q15L	UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank	NM_032490	NP_115879	Q9BXV9	CN142_HUMAN	hypothetical protein LOC84520	15											0		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CCGCAGCTTCTGCGGCTTCCC	0.622		NA									OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	61					0	0	0	0
AK7	122481	broad.mit.edu	37	14	96937852	96937852	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:96937852A>G	uc001yfn.2	+	13	1439	c.1395A>G	c.(1393-1395)AAA>AAG	p.K465K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	465	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATTTATGAAAGAAAAGCTAA	0.294		NA											4	32					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33944987	33944987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:33944987G>A	uc001zhi.2	+	32	4281	c.4211G>A	c.(4210-4212)CGG>CAG	p.R1404Q	RYR3_uc010bar.2_Missense_Mutation_p.R1404Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCAAATCGGAGCAACGTG	0.537		NA											11	50					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54306702	54306702	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:54306702C>T	uc002ack.2	+	1	1602	c.1602C>T	c.(1600-1602)CTC>CTT	p.L534L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACACCTCTCTGGCACTCAC	0.358		NA											7	61					0	0	0	0
PYGO1	26108	broad.mit.edu	37	15	55838897	55838897	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:55838897A>T	uc010bfl.1	-	3	640	c.584T>A	c.(583-585)GTT>GAT	p.V195D	PYGO1_uc002adf.1_Missense_Mutation_p.V195D	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	195	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGGGTTAGAAACTTGGCTAGC	0.348		NA											23	48					0	0	0	0
LIPC	3990	broad.mit.edu	37	15	58724316	58724316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:58724316C>G	uc010bga.1	+	3	693	c.85C>G	c.(85-87)CCA>GCA	p.P29A	LIPC_uc010bfz.1_Missense_Mutation_p.P29A|LIPC_uc002afa.1_Missense_Mutation_p.P29A|LIPC_uc010bgb.1_5'UTR|LIPC_uc010ugy.1_Missense_Mutation_p.P29A	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	29					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGCCTGAAACCAGGTAAGAG	0.448		NA											16	76					0	0	0	0
CILP	8483	broad.mit.edu	37	15	65491007	65491007	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:65491007G>C	uc002aon.2	-	9	1798	c.1617C>G	c.(1615-1617)CTC>CTG	p.L539L		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	539					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCACAAATGTGAGCACCAGCC	0.522		NA											14	65					0	0	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636273	74636273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:74636273T>C	uc002axt.2	-	4	841	c.686A>G	c.(685-687)GAG>GGG	p.E229G	CYP11A1_uc002axs.2_Missense_Mutation_p.E71G|CYP11A1_uc010bjm.1_Missense_Mutation_p.E71G|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.E229G|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.E9G	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	229					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCGCTGGGCCTCGGGGTTCAC	0.572		NA											3	138					0	0	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382664	79382664	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:79382664G>A	uc002beq.2	-	1	552	c.177C>T	c.(175-177)AGC>AGT	p.S59S	RASGRF1_uc002bep.2_Silent_p.S59S|RASGRF1_uc002ber.3_Silent_p.S59S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	59	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						AGGGCCGCGAGCTCGAGTCGC	0.637		NA											8	102					0	0	0	0
AGBL1	123624	broad.mit.edu	37	15	86940669	86940669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:86940669G>T	uc002blz.1	+	17	2389	c.2309G>T	c.(2308-2310)GGT>GTT	p.G770V		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	770					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GTGATGAAGGGTACCTTGGAG	0.483		NA											21	73					4.35e-09	1.02e-08	1	0
NTRK3	4916	broad.mit.edu	37	15	88472442	88472442	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:88472442A>T	uc002bme.1	-	16	2275	c.2113T>A	c.(2113-2115)TAC>AAC	p.Y705N	NTRK3_uc002bmh.2_Missense_Mutation_p.Y697N|NTRK3_uc002bmf.1_Missense_Mutation_p.Y705N|NTRK3_uc010upl.1_Missense_Mutation_p.Y607N|NTRK3_uc010bnh.1_Missense_Mutation_p.Y697N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	705	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGTGCTGTAGACATCTCTG	0.517		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			29	126					0	0	0	0
BLM	641	broad.mit.edu	37	15	91304239	91304239	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:91304239G>C	uc002bpr.2	+	7	1733	c.1636G>C	c.(1636-1638)GAA>CAA	p.E546Q	BLM_uc010uqh.1_Missense_Mutation_p.E546Q|BLM_uc010uqi.1_Missense_Mutation_p.E171Q|BLM_uc010bnx.2_Missense_Mutation_p.E546Q|BLM_uc002bps.1_Missense_Mutation_p.E108Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	546					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTAGAAAGAGAAACCCAACC	0.338		NA	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				6	72					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93540258	93540258	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:93540258A>G	uc002bsp.2	+	29	4242	c.3667A>G	c.(3667-3669)ATC>GTC	p.I1223V	CHD2_uc002bso.1_Missense_Mutation_p.I1223V	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAATCCATTATCCAACATGA	0.378		NA											3	36					0	0	0	0
WDR90	197335	broad.mit.edu	37	16	703573	703573	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:703573C>A	uc002cii.1	+	12	1336	c.1282C>A	c.(1282-1284)CAG>AAG	p.Q428K	WDR90_uc002cig.1_Missense_Mutation_p.Q428K|WDR90_uc002cih.1_Missense_Mutation_p.Q429K|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	428	WD 1.									ovary(1)	1		Hepatocellular(780;0.0218)				GGCCTCGGCCCAGGCAAGGGC	0.652		NA											19	71					1.56e-12	3.78e-12	1	0
WDR90	197335	broad.mit.edu	37	16	715788	715788	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:715788A>G	uc002cii.1	+	35	4475	c.4421A>G	c.(4420-4422)CAG>CGG	p.Q1474R	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.Q89R|WDR90_uc010uul.1_Missense_Mutation_p.Q73R|WDR90_uc002cio.1_Missense_Mutation_p.Q73R|WDR90_uc010bqx.1_Missense_Mutation_p.Q73R|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1474										ovary(1)	1		Hepatocellular(780;0.0218)				ATCCAGTTCCAGGTGCTGAAC	0.701		NA											3	29					0	0	0	0
NTN3	4917	broad.mit.edu	37	16	2522435	2522435	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:2522435G>C	uc002cqj.2	+	1	936	c.733G>C	c.(733-735)GCA>CCA	p.A245P	TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	245	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						TTACTCCTACGCAGCCACCGA	0.652		NA											8	57					0	0	0	0
RNF40	9810	broad.mit.edu	37	16	30776589	30776589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:30776589G>A	uc002dzq.2	+	7	982	c.859G>A	c.(859-861)GAG>AAG	p.E287K	RNF40_uc010caa.2_Missense_Mutation_p.E287K|RNF40_uc010cab.2_Missense_Mutation_p.E287K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.E287K|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	287	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GTGGGACATCGAGAAGCTGCG	0.582		NA											10	66					0	0	0	0
NUP93	9688	broad.mit.edu	37	16	56865903	56865903	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:56865903A>T	uc002eka.2	+	11	1356	c.1235A>T	c.(1234-1236)GAT>GTT	p.D412V	NUP93_uc002ekb.2_Missense_Mutation_p.D289V|NUP93_uc010vhi.1_Missense_Mutation_p.D289V	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						AAAACTGAGGATTACCTGTGG	0.502		NA											17	94					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66969362	66969362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:66969362C>G	uc002eqr.2	+	1	1016	c.16C>G	c.(16-18)CGC>GGC	p.R6G	CES2_uc002eqq.2_Missense_Mutation_p.R6G|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	Error:Variant_position_missing_in_O00748_after_alignment					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGCTCAGTCCCGCTCTCCTAC	0.647		NA											11	129					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72984464	72984464	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:72984464G>C	uc002fck.2	-	3	3793	c.3120C>G	c.(3118-3120)CTC>CTG	p.L1040L	ZFHX3_uc002fcl.2_Silent_p.L126L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1040	C2H2-type 8; atypical.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CGTTGCACTTGAGGTGCACGG	0.597		NA											24	33					0	0	0	0
BCMO1	53630	broad.mit.edu	37	16	81298334	81298334	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:81298334C>T	uc002fgn.1	+	5	779	c.561C>T	c.(559-561)TCC>TCT	p.S187S	BCMO1_uc010vnp.1_Silent_p.S118S	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	187					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						TGGGCACATCCATTGTGGAAA	0.428		NA											10	38					0	0	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764695	89764695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:89764695C>T	uc002foj.2	-	3	387	c.322G>A	c.(322-324)GTG>ATG	p.V108M	SPATA2L_uc002fok.2_Missense_Mutation_p.V108M	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	108											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCACGTGCACGTAGCCCCCA	0.617		NA											25	252					0	0	0	0
KIF1C	10749	broad.mit.edu	37	17	4910344	4910344	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:4910344C>A	uc002gan.1	+	14	1626	c.1300C>A	c.(1300-1302)CAG>AAG	p.Q434K		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	434					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CACGGAGTCCCAGATTGGGCC	0.597		NA											17	64					0.000566183	0.00115092	1	0
RPAIN	84268	broad.mit.edu	37	17	5323591	5323592	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323591_5323592TG>CT	uc002gbq.2	+	1	631_632	c.61_62TG>CT	c.(61-63)TGG>CTG	p.W21L	NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.W21L|RPAIN_uc002gbp.1_Missense_Mutation_p.L74S|RPAIN_uc010vta.1_Missense_Mutation_p.W21L|RPAIN_uc010vtb.1_Missense_Mutation_p.W21L|RPAIN_uc002gbs.2_Missense_Mutation_p.L74S|RPAIN_uc002gbt.2_Missense_Mutation_p.W21L|RPAIN_uc002gbu.2_Missense_Mutation_p.L74S|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.W21L	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	21					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						CTCGCCGCCTTGGAAAGAGGCT	0.624		NA											12	35					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577508	7577508	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:7577508T>G	uc002gim.2	-	7	967	c.773A>C	c.(772-774)GAA>GCA	p.E258A	TP53_uc002gig.1_Missense_Mutation_p.E258A|TP53_uc002gih.2_Missense_Mutation_p.E258A|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126A|TP53_uc010cng.1_Missense_Mutation_p.E126A|TP53_uc002gii.1_Missense_Mutation_p.E126A|TP53_uc010cnh.1_Missense_Mutation_p.E258A|TP53_uc010cni.1_Missense_Mutation_p.E258A|TP53_uc002gij.2_Missense_Mutation_p.E258A|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165A|TP53_uc002gio.2_Missense_Mutation_p.E126A	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	258	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTGGAGTCTTCCAGTGTGAT	0.582		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	29					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8383805	8383805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:8383805C>T	uc002gll.2	-	37	5306	c.5210G>A	c.(5209-5211)CGG>CAG	p.R1737Q	MYH10_uc002glm.2_Missense_Mutation_p.R1768Q|MYH10_uc010cnx.2_Missense_Mutation_p.R1746Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1737	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTGTGCGATCCGAGCTTCCAG	0.612		NA											10	12					0	0	0	0
TBC1D28	254272	broad.mit.edu	37	17	18542504	18542504	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:18542504C>G	uc002gud.2	-	6	594	c.182G>C	c.(181-183)AGT>ACT	p.S61T		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	61						intracellular	Rab GTPase activator activity			ovary(1)	1						CTCCAGGGCACTGACGCGGGG	0.652		NA											20	31					0	0	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822750	26822750	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:26822750C>T	uc002hbh.2	+	10	1453	c.1386C>T	c.(1384-1386)ATC>ATT	p.I462I	SLC13A2_uc010wam.1_Silent_p.I418I|SLC13A2_uc010wan.1_Silent_p.I511I|SLC13A2_uc010wao.1_Silent_p.I419I|SLC13A2_uc002hbi.2_Silent_p.I391I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	462	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTGCCATCATCCTCTCCCTCC	0.612		NA											51	112					0	0	0	0
MED24	9862	broad.mit.edu	37	17	38179592	38179592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:38179592G>T	uc002htt.2	-	20	2355	c.2042C>A	c.(2041-2043)ACA>AAA	p.T681K	MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.T16K|MED24_uc010wes.1_Missense_Mutation_p.T541K|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T706K|MED24_uc002htu.2_Missense_Mutation_p.T668K|MED24_uc010cwn.2_Missense_Mutation_p.T668K|MED24_uc010weu.1_Missense_Mutation_p.T591K|MED24_uc010wev.1_Missense_Mutation_p.T631K|MED24_uc010wew.1_Missense_Mutation_p.T622K	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	681					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTGCGTGGCTGTCTGCTGCAG	0.612		NA											16	33					1.03e-11	2.47e-11	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40825796	40825796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:40825796G>A	uc002iau.2	-	4	822	c.355C>T	c.(355-357)CGA>TGA	p.R119*	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R119*	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	119	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AACCAGGCTCGGCGCGGGGGC	0.697		NA											7	5					0	0	0	0
EFTUD2	9343	broad.mit.edu	37	17	42930947	42930947	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:42930947G>T	uc002ihn.2	-	24	2665	c.2404C>A	c.(2404-2406)CAC>AAC	p.H802N	EFTUD2_uc010wje.1_Missense_Mutation_p.H767N|EFTUD2_uc010wjf.1_Missense_Mutation_p.H792N	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	802						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592		NA											6	57					5.94e-07	1.32e-06	1	0
TOB1	10140	broad.mit.edu	37	17	48941307	48941307	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:48941307A>G	uc002isw.2	-	1	107	c.72T>C	c.(70-72)CGT>CGC	p.R24R	TOB1_uc010wmy.1_Silent_p.R24R|TOB1_uc010wmz.1_Silent_p.R24R|uc002isy.2_5'Flank	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	24					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AAATGTTGACACGTCTCCTGG	0.373		NA											11	101					0	0	0	0
EPX	8288	broad.mit.edu	37	17	56271376	56271376	+	Missense_Mutation	SNP	G	G	C	rs150719520		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56271376G>C	uc002ivq.2	+	5	603	c.517G>C	c.(517-519)GCC>CCC	p.A173P		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	173					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CTGGCTGCCCGCCGAGTATGA	0.652		NA											13	51					0	0	0	0
CD300A	11314	broad.mit.edu	37	17	72469713	72469713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:72469713C>A	uc002jkv.2	+	2	400	c.79C>A	c.(79-81)CCC>ACC	p.P27T	CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	leukocyte membrane antigen	27	Extracellular (Potential).|Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2						CGTGGCGGGCCCCGTGGGGGG	0.562		NA											19	89					1.16e-05	2.48e-05	1	0
QRICH2	84074	broad.mit.edu	37	17	74271917	74271917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:74271917G>A	uc002jrd.1	-	18	5147	c.4967C>T	c.(4966-4968)TCG>TTG	p.S1656L	QRICH2_uc010wsz.1_Silent_p.F1348F|QRICH2_uc010dgw.1_Missense_Mutation_p.S500L	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1656							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						GTTGCCAGCCGAAATCTGGGC	0.672		NA											10	32					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78319512	78319512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78319512G>C	uc002jyh.1	+	4	1819	c.1596G>C	c.(1594-1596)ATG>ATC	p.M532I		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCAGACATGATCTACTCCA	0.488		NA											17	106					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78360548	78360548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78360548C>T	uc002jyh.1	+	38	9221	c.8998C>T	c.(8998-9000)CGG>TGG	p.R3000W	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAAGTGGAGCGGGACCTGAC	0.572		NA											35	36					0	0	0	0
LRRC45	201255	broad.mit.edu	37	17	79986313	79986313	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:79986313A>T	uc002kde.2	+	11	1406	c.1166A>T	c.(1165-1167)CAG>CTG	p.Q389L		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	389	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGCAGGAGCAGCTGTTCCAG	0.662		NA											16	87					0	0	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684370	80684371	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684370_80684371GG>TT	uc002kfu.2	+	5	533_534	c.483_484GG>TT	c.(481-486)CAGGAG>CATTAG	p.161_162QE>H*	FN3KRP_uc010wvr.1_Nonsense_Mutation_p.111_112QE>H*	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	161_162							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATGACTGGCAGGAGGACTGGGT	0.559		NA											98	207					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397303	5397303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:5397303G>T	uc002kmt.1	-	18	2681	c.2595C>A	c.(2593-2595)CAC>CAA	p.H865Q	EPB41L3_uc010wzh.1_Missense_Mutation_p.H696Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.H643Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.H534Q|EPB41L3_uc002kms.1_Missense_Mutation_p.H100Q|EPB41L3_uc010wze.1_Missense_Mutation_p.H170Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.H162Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.H137Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.H257Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	865	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CCCCACTCGCGTGCACCACAC	0.617		NA											29	41					7.68e-24	1.95e-23	1	0
ANKRD12	23253	broad.mit.edu	37	18	9256148	9256148	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:9256148G>A	uc002knv.2	+	9	3140	c.2883G>A	c.(2881-2883)AAG>AAA	p.K961K	ANKRD12_uc002knw.2_Silent_p.K938K|ANKRD12_uc002knx.2_Silent_p.K938K|ANKRD12_uc010dkx.1_Silent_p.K668K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	961						nucleus				ovary(2)|central_nervous_system(1)	3						TAGATAAAAAGGAAAAATCTA	0.284		NA											4	19					0	0	0	0
PIK3C3	5289	broad.mit.edu	37	18	39618758	39618758	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:39618758A>C	uc002lap.2	+	18	2040	c.1982A>C	c.(1981-1983)GAA>GCA	p.E661A	PIK3C3_uc010xcl.1_Missense_Mutation_p.E598A|PIK3C3_uc002laq.2_Missense_Mutation_p.E146A|PIK3C3_uc002lar.1_Missense_Mutation_p.E45A	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	661	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TTACGGAAAGAAAATCTGGAC	0.299		NA								TSP Lung(28;0.18)			10	30					0	0	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881347	1881347	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:1881347A>G	uc002lug.2	-	2	625	c.219T>C	c.(217-219)CGT>CGC	p.R73R	FAM108A1_uc002lud.2_Silent_p.R73R|FAM108A1_uc002lue.2_Silent_p.R73R|FAM108A1_uc002luf.2_Silent_p.R73R	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	73						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTCGGCACGCTCCGTCA	0.716		NA											4	52					0	0	0	0
VAV1	7409	broad.mit.edu	37	19	6854109	6854109	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:6854109G>T	uc002mfu.1	+	26	2581	c.2484G>T	c.(2482-2484)CGG>CGT	p.R828R	VAV1_uc010xjh.1_Silent_p.R796R|VAV1_uc010dva.1_Silent_p.R806R|VAV1_uc002mfv.1_Silent_p.R773R	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TCTATGGCCGGGTGAGGCAGG	0.622		NA											8	31					3.1e-07	6.91e-07	1	0
ICAM1	3383	broad.mit.edu	37	19	10385697	10385697	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:10385697C>A	uc002mnq.2	+	2	643	c.324C>A	c.(322-324)ACC>ACA	p.T108T	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	108	Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTTCCTCACCGTGTACTGTG	0.552		NA											22	104					3.62e-10	8.53e-10	1	0
SMARCA4	6597	broad.mit.edu	37	19	11138619	11138619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11138619G>T	uc002mqf.3	+	24	3659	c.3375G>T	c.(3373-3375)AGG>AGT	p.R1125S	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1125S|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1125S|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxt.1_Missense_Mutation_p.R345S|SMARCA4_uc002mqh.3_Missense_Mutation_p.R248S|SMARCA4_uc002mqi.1_Missense_Mutation_p.R328S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1125	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AATACCTCAGGCTTGATGGTG	0.512		NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				43	89					2.54e-34	6.51e-34	1	0
C19orf39	126074	broad.mit.edu	37	19	11486363	11486363	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11486363A>T	uc002mrg.1	+	2	398	c.361A>T	c.(361-363)ACA>TCA	p.T121S		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	hypothetical protein LOC126074	121											0						ACTTCTAGACACAGCTGCCCA	0.637		NA											76	54					0	0	0	0
SIN3B	23309	broad.mit.edu	37	19	16977356	16977356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:16977356G>T	uc002ney.1	+	13	1905	c.1891G>T	c.(1891-1893)GTC>TTC	p.V631F	SIN3B_uc002nez.1_Missense_Mutation_p.V599F|SIN3B_uc010xpi.1_Missense_Mutation_p.V189F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	631					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GATCGAGAGCGTCTACGACGA	0.622		NA											29	20					2.66e-16	6.62e-16	1	0
GMIP	51291	broad.mit.edu	37	19	19753398	19753398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:19753398C>G	uc002nnd.2	-	2	167	c.50G>C	c.(49-51)AGG>ACG	p.R17T	GMIP_uc010xrb.1_Missense_Mutation_p.R17T|GMIP_uc010xrc.1_Missense_Mutation_p.R17T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	17					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GTCACTGTACCTCTTCCTGCC	0.592		NA											89	64					0	0	0	0
ZNF257	113835	broad.mit.edu	37	19	22271543	22271543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:22271543C>T	uc010ecx.2	+	4	1160	c.991C>T	c.(991-993)CTT>TTT	p.L331F	ZNF257_uc010ecy.2_Missense_Mutation_p.L299F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	331	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCCTCAGCCCTTACTCGACA	0.423		NA											23	41					0	0	0	0
LGALS14	56891	broad.mit.edu	37	19	40197266	40197266	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40197266T>C	uc002omg.2	+	2	268	c.45T>C	c.(43-45)CCT>CCC	p.P15P	LGALS14_uc002omf.2_Silent_p.P44P	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	15	Galectin.					nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTCCTTGCCTGTTGGTTCGT	0.498		NA											66	131					0	0	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40710471G>A	uc002ona.2	+	3	1231	c.943G>A	c.(943-945)GTG>ATG	p.V315M	MAP3K10_uc002onb.2_Translation_Start_Site	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	315	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GGCGTATGGCGTGGCTATGAA	0.682		NA											7	41					0	0	0	0
KCNN4	3783	broad.mit.edu	37	19	44271786	44271786	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:44271786G>A	uc002oxl.2	-	8	1589	c.1193C>T	c.(1192-1194)ACG>ATG	p.T398M	KCNN4_uc010eiz.2_Missense_Mutation_p.T322M	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	398					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCCCGCCAGCGTGTCAATCTG	0.602		NA											33	31					0	0	0	0
TOMM40	10452	broad.mit.edu	37	19	45406351	45406351	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:45406351G>A	uc002ozx.3	+	10	1112	c.1011G>A	c.(1009-1011)CTG>CTA	p.L337L	TOMM40_uc002ozy.3_Silent_p.L337L|TOMM40_uc002paa.3_Silent_p.L337L|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	337					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCCTGCCCCTGACACTGGCCC	0.627		NA											15	52					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54313633	54313633	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54313633G>T	uc002qch.3	-	3	1500	c.1280C>A	c.(1279-1281)ACG>AAG	p.T427K	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.T427K|NLRP12_uc002qcj.3_Missense_Mutation_p.T427K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.T427K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	427	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTGGACGTCTGTCTCAA	0.642		NA											59	96					3.53e-34	9.02e-34	1	0
LILRA6	79168	broad.mit.edu	37	19	54744856	54744856	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54744856C>G	uc002qeu.1	-	5	930	c.806G>C	c.(805-807)GGC>GCC	p.G269A	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G269A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G269A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G269A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G269A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G269A|LILRA6_uc010yeq.1_Missense_Mutation_p.G269A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G130A	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	269	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTGCTGGCCAGGGCGCTG	0.642		NA											21	68					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54755925	54755925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54755925C>G	uc002qex.2	-	12	1729	c.1618G>C	c.(1618-1620)GAT>CAT	p.D540H	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.D532H|LILRB5_uc002qey.2_Missense_Mutation_p.D541H|LILRB5_uc002qez.2_Missense_Mutation_p.D441H|LILRB5_uc002qfa.1_3'UTR	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	540	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCCGAGCATCCATCTCCACC	0.627		NA											4	160					0	0	0	0
ZNF524	147807	broad.mit.edu	37	19	56114033	56114033	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:56114033G>A	uc002qlk.1	+	2	638	c.555G>A	c.(553-555)CTG>CTA	p.L185L	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	185	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGCGAGCTGGCGCACCACC	0.736		NA											10	13					0	0	0	0
ZNF547	284306	broad.mit.edu	37	19	57888603	57888603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:57888603C>A	uc002qol.2	+	4	452	c.259C>A	c.(259-261)CAG>AAG	p.Q87K	ZNF547_uc002qpm.3_Missense_Mutation_p.Q13K|ZNF547_uc010ygx.1_Missense_Mutation_p.Q87K	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	87	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAATACCCAGCCCTGTGA	0.547		NA											19	31					9.77e-05	0.000202294	1	0
GREB1	9687	broad.mit.edu	37	2	11696796	11696796	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696796A>G	uc002rbk.1	+	2	356	c.56A>G	c.(55-57)CAC>CGC	p.H19R	GREB1_uc002rbl.2_Missense_Mutation_p.H19R|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.H19R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	19						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGTCTTGCACAATTCCATC	0.512		NA											31	69					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11696840	11696840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696840A>T	uc002rbk.1	+	2	400	c.100A>T	c.(100-102)AGG>TGG	p.R34W	GREB1_uc002rbl.2_Missense_Mutation_p.R34W|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.R34W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	34						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGGTGCCCAGGCCCATCTT	0.517		NA											13	57					0	0	0	0
APOB	338	broad.mit.edu	37	2	21230159	21230159	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21230159C>A	uc002red.2	-	26	9709	c.9581G>T	c.(9580-9582)TGT>TTT	p.C3194F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3194	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATAAACTCACAAAGCACAGC	0.328		NA											20	41					4.97e-08	1.13e-07	1	0
ADCY3	109	broad.mit.edu	37	2	25048966	25048966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:25048966A>T	uc002rfs.3	-	15	2724	c.2525T>A	c.(2524-2526)ATG>AAG	p.M842K	ADCY3_uc002rfr.3_Missense_Mutation_p.M429K|ADCY3_uc010ykm.1_Missense_Mutation_p.M843K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	842	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCACCGTCATAGAGTACTT	0.612		NA											7	29					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27800686	27800686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:27800686C>T	uc002rkz.3	+	1	1298	c.1247C>T	c.(1246-1248)TCT>TTT	p.S416F		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	416										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGAATCTTTAGAGGTG	0.473		NA											8	70					0	0	0	0
RTN4	57142	broad.mit.edu	37	2	55252626	55252626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:55252626T>A	uc002rye.2	-	3	2907	c.2609A>T	c.(2608-2610)GAG>GTG	p.E870V	RTN4_uc002ryd.2_Missense_Mutation_p.E664V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	870	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TGTAGGGAACTCATCTATAAT	0.328		NA											8	51					0	0	0	0
USP34	9736	broad.mit.edu	37	2	61415830	61415830	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:61415830T>A	uc002sbe.2	-	80	10070	c.10048A>T	c.(10048-10050)ACT>TCT	p.T3350S	USP34_uc002sbd.2_Missense_Mutation_p.T152S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3350					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TTAATGGGAGTTGCTCCTTCA	0.463		NA											20	61					0	0	0	0
ACTG2	72	broad.mit.edu	37	2	74128460	74128460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:74128460G>A	uc002sjw.2	+	2	144	c.22G>A	c.(22-24)GCG>ACG	p.A8T	ACTG2_uc010fex.1_Missense_Mutation_p.A8T|ACTG2_uc010fey.2_Missense_Mutation_p.A8T|ACTG2_uc010yrn.1_Missense_Mutation_p.A8T	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	8					muscle contraction	cytoskeleton|cytosol	ATP binding				0						GGAGACCACCGCGCTCGTGTG	0.607		NA											10	42					0	0	0	0
REG3G	130120	broad.mit.edu	37	2	79254286	79254286	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79254286G>T	uc002snw.2	+	4	407	c.322G>T	c.(322-324)GAC>TAC	p.D108Y	REG3G_uc002snx.2_Missense_Mutation_p.D108Y|REG3G_uc010ffu.2_Intron	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	108	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						TGGGCTCCATGACCCCACACA	0.552		NA											25	88					6.33e-13	1.53e-12	1	0
REG1A	5967	broad.mit.edu	37	2	79349170	79349171	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349170_79349171GG>TT	uc002snz.2	+	4	343_344	c.240_241GG>TT	c.(238-243)GAGGGT>GATTGT	p.80_81EG>DC	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.80_81EG>DC	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	80_81	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						CCCAGGCCGAGGGTGCCTTTGT	0.515		NA											31	106					0	0	0	0
VWA3B	200403	broad.mit.edu	37	2	98797619	98797619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98797619G>T	uc002syo.2	+	9	1519	c.1255G>T	c.(1255-1257)GAT>TAT	p.D419Y	VWA3B_uc010yvh.1_Missense_Mutation_p.D269Y|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.D419Y|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D76Y	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	419										ovary(3)|large_intestine(2)|skin(1)	6						CCGCCACGCTGATGGGGTTGT	0.552		NA											31	103					5.83e-16	1.45e-15	1	0
VWA3B	200403	broad.mit.edu	37	2	98916586	98916586	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98916586T>C	uc002syo.2	+	25	3591	c.3327T>C	c.(3325-3327)TTT>TTC	p.F1109F	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.F766F|VWA3B_uc002syp.1_Silent_p.F501F|VWA3B_uc002syq.1_Silent_p.F385F|VWA3B_uc002syr.1_Silent_p.F426F|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1109										ovary(3)|large_intestine(2)|skin(1)	6						CCAAAGGATTTGACTTCTATG	0.388		NA											46	131					0	0	0	0
AFF3	3899	broad.mit.edu	37	2	100210206	100210206	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:100210206C>T	uc002tag.2	-	14	2153	c.1917G>A	c.(1915-1917)AAG>AAA	p.K639K	AFF3_uc002taf.2_Silent_p.K664K|AFF3_uc010fiq.1_Silent_p.K639K|AFF3_uc010yvr.1_Silent_p.K792K|AFF3_uc002tah.1_Silent_p.K664K	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AGCGCAGCTCCTTGCGGTGGC	0.662		NA											14	74					0	0	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968311	102968311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:102968311A>C	uc002tbu.1	+	11	1872	c.1601A>C	c.(1600-1602)CAA>CCA	p.Q534P	IL18R1_uc002tbw.3_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	534	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTGAGGTACCAAATGCCTGTG	0.488		NA											15	91					0	0	0	0
DPP10	57628	broad.mit.edu	37	2	116535404	116535404	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:116535404T>A	uc002tla.1	+	15	1812	c.1355T>A	c.(1354-1356)CTG>CAG	p.L452Q	DPP10_uc002tlb.1_Missense_Mutation_p.L402Q|DPP10_uc002tlc.1_Missense_Mutation_p.L448Q|DPP10_uc002tle.2_Missense_Mutation_p.L456Q|DPP10_uc002tlf.1_Missense_Mutation_p.L445Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	452	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GGAAGGCAGCTGTACAGGTAA	0.403		NA											7	62					0	0	0	0
EPB41L5	57669	broad.mit.edu	37	2	120844792	120844792	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:120844792G>A	uc002tmg.2	+	11	975	c.849G>A	c.(847-849)TTG>TTA	p.L283L	EPB41L5_uc010flk.2_Silent_p.L283L|EPB41L5_uc010fll.2_Silent_p.L283L|EPB41L5_uc002tmh.3_Silent_p.L283L|EPB41L5_uc010flm.2_Silent_p.L87L	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	283	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AATTAACCTTGGTGGTTGTAG	0.289		NA											13	43					0	0	0	0
GLI2	2736	broad.mit.edu	37	2	121747427	121747427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:121747427C>G	uc010flp.2	+	13	3967	c.3937C>G	c.(3937-3939)CCA>GCA	p.P1313A	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P985A|GLI2_uc002tmu.3_Missense_Mutation_p.P968A	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1313					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GGCTGGAGTGCCACCACCTCA	0.647		NA											3	32					0	0	0	0
SAP130	79595	broad.mit.edu	37	2	128775403	128775403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:128775403G>C	uc002tpp.2	-	3	409	c.277C>G	c.(277-279)CAA>GAA	p.Q93E	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.Q93E|SAP130_uc002tpq.1_Missense_Mutation_p.Q67E	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	93					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACAGGCTCTTGCTTCTCCTCC	0.547		NA											21	118					0	0	0	0
YSK4	80122	broad.mit.edu	37	2	135745488	135745488	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:135745488T>A	uc002tue.1	-	7	985	c.954A>T	c.(952-954)AAA>AAT	p.K318N	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K205N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K46N|YSK4_uc002tui.3_Missense_Mutation_p.K335N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	318							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGATTTCAATTTTGTTACATT	0.403		NA											21	47					0	0	0	0
GTDC1	79712	broad.mit.edu	37	2	144903281	144903281	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:144903281T>A	uc002tvp.2	-	5	484	c.205A>T	c.(205-207)AAC>TAC	p.N69Y	GTDC1_uc002tvo.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvq.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvr.2_Missense_Mutation_p.N69Y|GTDC1_uc010fnn.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvs.2_Missense_Mutation_p.N37Y|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.N69Y	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	69					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCGGTCAGGTTAAGCACTGAA	0.438		NA											22	64					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179598434	179598434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:179598434G>A	uc010zfg.1	-	50	12174	c.11950C>T	c.(11950-11952)CCT>TCT	p.P3984S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P645S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4911							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACATCAGGGATTATCAAG	0.413		NA											39	145					0	0	0	0
PGAP1	80055	broad.mit.edu	37	2	197711732	197711732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197711732C>G	uc002utw.2	-	22	2259	c.2145G>C	c.(2143-2145)TTG>TTC	p.L715F	PGAP1_uc002utx.2_Missense_Mutation_p.L541F|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	715	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						TTTACCTTTTCAAAGCTAGCC	0.333		NA											10	22					0	0	0	0
ANKRD44	91526	broad.mit.edu	37	2	197866545	197866545	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197866545C>T	uc002uua.1	-	22	2369	c.2292G>A	c.(2290-2292)GAG>GAA	p.E764E	ANKRD44_uc002utz.3_Silent_p.E496E	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	789	ANK 23.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAAAAGTACCTCTATACAGT	0.333		NA											14	50					0	0	0	0
MARS2	92935	broad.mit.edu	37	2	198570156	198570156	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:198570156G>T	uc002uuq.2	+	1	70	c.27G>T	c.(25-27)CTG>CTT	p.L9L	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	9					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	TCCTCCGCCTGCTAGGACGCA	0.662		NA											8	63					2.74e-10	6.49e-10	1	0
PARD3B	117583	broad.mit.edu	37	2	205989155	205989155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:205989155G>A	uc002var.1	+	9	1477	c.1270G>A	c.(1270-1272)GAT>AAT	p.D424N	PARD3B_uc010fub.1_Missense_Mutation_p.D424N|PARD3B_uc002vao.1_Missense_Mutation_p.D424N|PARD3B_uc002vap.1_Missense_Mutation_p.D424N|PARD3B_uc002vaq.1_Missense_Mutation_p.D424N	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	424	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCAATAAAAGATGGCCGCCT	0.373		NA											22	59					0	0	0	0
ATIC	471	broad.mit.edu	37	2	216190845	216190845	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:216190845G>T	uc002vex.3	+	6	689	c.515G>T	c.(514-516)CGC>CTC	p.R172L	ATIC_uc010zjo.1_Missense_Mutation_p.R113L|ATIC_uc002vey.3_Missense_Mutation_p.R171L	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	172					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GAGACTAGACGCCAGTTAGCC	0.473		NA	T	ALK	ALCL								12	41					9.31e-06	2e-05	1	0
STK36	27148	broad.mit.edu	37	2	219543985	219543985	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:219543985G>T	uc002viu.2	+	7	1044	c.778_splice	c.e7+1	p.I260_splice	STK36_uc002viv.2_Splice_Site_p.I260_splice	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCACCAGTGAGTCATCA	0.507		NA											16	84					2.23e-06	4.87e-06	1	0
TGM6	343641	broad.mit.edu	37	20	2413288	2413288	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:2413288G>T	uc002wfy.1	+	13	2181	c.2120G>T	c.(2119-2121)TGA>TTA	p.*707L	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	707					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACTGCCAAGTGATGGATCATG	0.493		NA											18	62					1.45e-14	3.56e-14	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3678550	3678550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:3678550G>A	uc002wja.2	-	8	2017	c.2017C>T	c.(2017-2019)CGT>TGT	p.R673C	SIGLEC1_uc002wiz.3_Missense_Mutation_p.R673C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	673	Ig-like C2-type 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						ATCTCCACACGCAGCAAGTTG	0.612		NA											10	50					0	0	0	0
HAO1	54363	broad.mit.edu	37	20	7875861	7875861	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:7875861G>T	uc002wmw.1	-	5	756	c.732C>A	c.(730-732)GCC>GCA	p.A244A	HAO1_uc010gbu.2_Silent_p.A244A	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	244	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						CAGCCTCCCTGGCATCATCAC	0.512		NA											11	70					0.00010058	0.000207695	1	0
REM1	28954	broad.mit.edu	37	20	30070276	30070276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:30070276G>A	uc002wwa.2	+	4	894	c.610G>A	c.(610-612)GAA>AAA	p.E204K		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	204					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCTGCCGAGAAGTCTCTGT	0.617		NA											11	46					0	0	0	0
HSF2BP	11077	broad.mit.edu	37	21	45050217	45050217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:45050217G>A	uc002zdi.2	-	6	892	c.560C>T	c.(559-561)GCT>GTT	p.A187V	HSF2BP_uc011aey.1_Missense_Mutation_p.A112V	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	187					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		GACAATTCCAGCCAGAGCGAA	0.279		NA											3	30					0	0	0	0
BCL2L13	23786	broad.mit.edu	37	22	18210216	18210216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:18210216G>C	uc002zmw.2	+	7	1592	c.1374G>C	c.(1372-1374)AAG>AAC	p.K458N	BCL2L13_uc002zmx.2_Missense_Mutation_p.K296N|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.K296N|BCL2L13_uc011agk.1_Missense_Mutation_p.K334N|BCL2L13_uc010gqz.2_Missense_Mutation_p.K178N|BCL2L13_uc002zmz.2_Missense_Mutation_p.K296N|BCL2L13_uc002zna.2_Missense_Mutation_p.K178N	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	458	B; approximate.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CTGAGGGCAAGTCTATACTGC	0.597		NA											11	188					0	0	0	0
RNF215	200312	broad.mit.edu	37	22	30782669	30782669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:30782669G>A	uc003ahp.2	-	2	365	c.365C>T	c.(364-366)GCC>GTC	p.A122V	RNF215_uc011akw.1_Missense_Mutation_p.A27V	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	122	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						GTGGAACTGGGCCGCCTGCTC	0.637		NA											16	71					0	0	0	0
ADSL	158	broad.mit.edu	37	22	40760320	40760320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:40760320C>T	uc003ayp.3	+	11	1201	c.1142C>T	c.(1141-1143)GCC>GTC	p.A381V	ADSL_uc003ays.3_Missense_Mutation_p.A381V|ADSL_uc003ayq.3_Missense_Mutation_p.A395V|ADSL_uc003ayr.3_Missense_Mutation_p.A157V|ADSL_uc003ayt.3_Missense_Mutation_p.A366V	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	381					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						CCTTTCATGGCCACAGAGAAC	0.478		NA											6	38					0	0	0	0
NUP50	10762	broad.mit.edu	37	22	45571834	45571834	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:45571834A>G	uc003bfr.2	+	4	675	c.213A>G	c.(211-213)GGA>GGG	p.G71G	NUP50_uc003bfs.2_Silent_p.G43G|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Silent_p.G43G|NUP50_uc011aqo.1_5'Flank	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	71	Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTGGAGGAGGACGCTTTTCTG	0.493		NA											8	112					0	0	0	0
NUP210	23225	broad.mit.edu	37	3	13438951	13438951	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:13438951G>T	uc003bxv.1	-	3	425	c.342C>A	c.(340-342)GAC>GAA	p.D114E		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	114	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CATGGATGAGGTCCACAATGG	0.622		NA											13	35					2.63e-14	6.43e-14	1	0
PLCL2	23228	broad.mit.edu	37	3	17052474	17052474	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:17052474A>T	uc011awc.1	+	5	1717	c.1612A>T	c.(1612-1614)ACA>TCA	p.T538S	PLCL2_uc010het.1_3'UTR|PLCL2_uc011awd.1_Missense_Mutation_p.T420S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	546	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						GCTCTATACAACATCACCCAA	0.388		NA											8	26					0	0	0	0
NEK10	152110	broad.mit.edu	37	3	27203967	27203967	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27203967T>A	uc010hfk.2	-	10	1160	c.931A>T	c.(931-933)AAT>TAT	p.N311Y	NEK10_uc003cds.1_Missense_Mutation_p.N396Y|NEK10_uc010hfj.2_Intron			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	999							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TCTTTGAGATTTCGAAGAATC	0.463		NA											28	54					0	0	0	0
EOMES	8320	broad.mit.edu	37	3	27760106	27760106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27760106C>T	uc003cdx.2	-	5	1351	c.1351G>A	c.(1351-1353)GCA>ACA	p.A451T	EOMES_uc003cdy.3_Missense_Mutation_p.A451T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.A156T	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	451	T-box.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						AAGCCTTTTGCAAAGGGGTTA	0.403		NA											10	37					0	0	0	0
TRANK1	9881	broad.mit.edu	37	3	36898414	36898414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:36898414C>A	uc003cgj.2	-	3	1319	c.1017G>T	c.(1015-1017)CGG>CGT	p.R339R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	889					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CCGTGTAGATCCGCCCTGATT	0.522		NA											11	7					0.000673444	0.00135836	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347844	38347844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:38347844C>G	uc010hhc.1	+	2	369	c.327C>G	c.(325-327)CAC>CAG	p.H109Q	SLC22A14_uc003cia.2_Missense_Mutation_p.H109Q|SLC22A14_uc003cib.2_Missense_Mutation_p.H109Q|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	109	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532		NA											35	53					0	0	0	0
MYRIP	25924	broad.mit.edu	37	3	40231705	40231705	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:40231705G>A	uc003cka.2	+	10	1551	c.1416G>A	c.(1414-1416)CTG>CTA	p.L472L	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.L472L|MYRIP_uc010hhw.2_Silent_p.L383L|MYRIP_uc011ayz.1_Silent_p.L285L|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	472	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCAGACTGTCCTGGTTGC	0.627		NA											37	41					0	0	0	0
ABHD5	51099	broad.mit.edu	37	3	43743731	43743731	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:43743731A>C	uc003cmx.2	+	3	268	c.158A>C	c.(157-159)GAA>GCA	p.E53A		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	53					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			ovary(1)	1		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TACAAAAAAGAACCTGTTCGT	0.338		NA											20	24					0	0	0	0
ZNF502	91392	broad.mit.edu	37	3	44762721	44762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:44762721G>T	uc011baa.1	+	4	667	c.412G>T	c.(412-414)GAT>TAT	p.D138Y	ZNF502_uc003cns.2_Missense_Mutation_p.D138Y|ZNF502_uc011bab.1_Missense_Mutation_p.D138Y|ZNF502_uc003cnt.2_Missense_Mutation_p.D138Y	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAACCAATGATATTTCAGA	0.388		NA											7	41					1.13e-05	2.41e-05	1	0
SEMA3F	6405	broad.mit.edu	37	3	50225414	50225414	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:50225414A>T	uc003cyj.2	+	19	2422	c.2224A>T	c.(2224-2226)ATC>TTC	p.I742F	SEMA3F_uc003cyk.2_Missense_Mutation_p.I711F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	742					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGGCCTCATCCACCAGTA	0.687		NA											4	8					0	0	0	0
PCBP4	57060	broad.mit.edu	37	3	51995025	51995025	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:51995025C>A	uc003dcd.1	-	2	501	c.105_splice	c.e2+1	p.K35_splice	PCBP4_uc003dcb.1_Splice_Site|PCBP4_uc003dcc.1_Splice_Site|PCBP4_uc003dce.1_Splice_Site_p.K35_splice|PCBP4_uc003dcf.1_Splice_Site_p.K35_splice|PCBP4_uc003dcg.1_Splice_Site|PCBP4_uc003dch.1_Splice_Site_p.K35_splice|PCBP4_uc003dci.1_Splice_Site|PCBP4_uc003dcj.1_Splice_Site_p.K35_splice|PCBP4_uc003dck.1_Splice_Site_p.K35_splice|PCBP4_uc003dcl.1_Splice_Site_p.K35_splice	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c							cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGGCACCTACCTTCCCGATG	0.547		NA											17	124					0.00498961	0.00983579	1	0
BOC	91653	broad.mit.edu	37	3	112999437	112999437	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:112999437C>A	uc003dzx.2	+	14	2856	c.2235C>A	c.(2233-2235)ATC>ATA	p.I745I	BOC_uc003dzy.2_Silent_p.I745I|BOC_uc003dzz.2_Silent_p.I746I|BOC_uc003eab.2_Silent_p.I446I|BOC_uc003eac.2_Silent_p.I60I	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	745	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACACCCCAATCCATGGCTTTT	0.413		NA											10	41					0.000442599	0.000901105	1	0
C3orf30	152405	broad.mit.edu	37	3	118870107	118870107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:118870107G>A	uc003ecb.1	+	3	1619	c.1579G>A	c.(1579-1581)GAC>AAC	p.D527N	C3orf30_uc011biw.1_Missense_Mutation_p.D526N	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	527										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		AAAGCCAGAGGACCCCCTGAA	0.299		NA											84	156					0	0	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747090	126747090	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:126747090G>T	uc003ejg.2	+	24	4511	c.4507G>T	c.(4507-4509)GAC>TAC	p.D1503Y	PLXNA1_uc003ejh.2_Missense_Mutation_p.D171Y	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1526	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCTGGACTGTGACACGGTCAC	0.657		NA											12	31					1.09e-07	2.44e-07	1	0
A4GNT	51146	broad.mit.edu	37	3	137843691	137843691	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:137843691G>T	uc003ers.2	-	3	640	c.438C>A	c.(436-438)CTC>CTA	p.L146L		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	146	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						AGCTGATGTGGAGCCAGTTTC	0.587		NA											6	68					0.00198382	0.00394042	1	0
GPR149	344758	broad.mit.edu	37	3	154138924	154138924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:154138924T>A	uc003faa.2	-	3	1627	c.1527A>T	c.(1525-1527)GAA>GAT	p.E509D		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	509	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTCTGGCCCTTCAGAAAAGG	0.413		NA											105	98					0	0	0	0
KDR	3791	broad.mit.edu	37	4	55964304	55964304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55964304C>A	uc003has.2	-	17	2811	c.2509G>T	c.(2509-2511)GGT>TGT	p.G837C	KDR_uc003hat.1_Missense_Mutation_p.G837C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	837	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATGCACCTAGCTTCAGC	0.423		NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			7	66					5.49e-09	1.27e-08	1	0
KDR	3791	broad.mit.edu	37	4	55970955	55970955	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55970955G>T	uc003has.2	-	13	2144	c.1842C>A	c.(1840-1842)GCC>GCA	p.A614A	KDR_uc003hat.1_Silent_p.A614A|KDR_uc011bzx.1_Silent_p.A614A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	614	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAACATGGTGGCATTCAATT	0.463		NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			17	91					4.75e-09	1.11e-08	1	0
REST	5978	broad.mit.edu	37	4	57797980	57797980	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:57797980T>C	uc003hch.2	+	4	3303	c.2956T>C	c.(2956-2958)TCC>CCC	p.S986P	REST_uc003hci.2_Missense_Mutation_p.S986P|REST_uc010ihf.2_Missense_Mutation_p.S660P	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	986					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.S986F(1)		skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					TGAAGCAGTGTCCAAAACTGC	0.453		NA											3	66					0	0	0	0
PROL1	58503	broad.mit.edu	37	4	71275379	71275379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:71275379T>C	uc003hfi.2	+	3	508	c.334T>C	c.(334-336)TAC>CAC	p.Y112H		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	112	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)				ACTAAGACCTTACTATGTAGG	0.393		NA											48	135					0	0	0	0
FRAS1	80144	broad.mit.edu	37	4	79207678	79207678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:79207678C>A	uc003hlb.2	+	14	1959	c.1519C>A	c.(1519-1521)CGC>AGC	p.R507S	FRAS1_uc003hkw.2_Missense_Mutation_p.R507S|FRAS1_uc003hky.1_Missense_Mutation_p.R211S|FRAS1_uc003hkz.2_Missense_Mutation_p.R211S|FRAS1_uc003hla.1_Missense_Mutation_p.R18S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	507	FU 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTACCAAGATCGCCATTCCTG	0.622		NA											10	57					0.00010058	0.000207695	1	0
PRKG2	5593	broad.mit.edu	37	4	82061705	82061705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:82061705C>G	uc003hmh.2	-	11	1540	c.1526G>C	c.(1525-1527)TGC>TCC	p.C509S	PRKG2_uc011ccf.1_Missense_Mutation_p.C89S|PRKG2_uc011ccg.1_Missense_Mutation_p.C89S|PRKG2_uc011cch.1_Missense_Mutation_p.C480S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	509	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GAATGGAGAGCACAGCTCCTC	0.363		NA											11	77					0	0	0	0
HERC5	51191	broad.mit.edu	37	4	89407343	89407343	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:89407343A>G	uc003hrt.2	+	14	1968	c.1815A>G	c.(1813-1815)GTA>GTG	p.V605V	HERC5_uc011cdm.1_Silent_p.V243V	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	605					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTTTGTAGAAGTATGCA	0.358		NA											18	43					0	0	0	0
PITX2	5308	broad.mit.edu	37	4	111539443	111539443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:111539443G>C	uc003iad.2	-	5	1374	c.792C>G	c.(790-792)TAC>TAG	p.Y264*	PITX2_uc003iac.2_Nonsense_Mutation_p.Y271*|PITX2_uc003iae.2_Nonsense_Mutation_p.Y218*|PITX2_uc010iml.2_Nonsense_Mutation_p.Y135*|PITX2_uc003iaf.2_Nonsense_Mutation_p.Y264*	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	264					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCGGCGGCGCGTAAGGACAGG	0.592		NA											8	55					0	0	0	0
NDST3	9348	broad.mit.edu	37	4	119148127	119148127	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:119148127C>A	uc003ibx.2	+	8	2212	c.1809C>A	c.(1807-1809)CCC>CCA	p.P603P	NDST3_uc011cgf.1_Silent_p.P522P	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	603	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TAATAGGACCCCAGAAAACTG	0.368		NA											12	70					0.000978159	0.00196992	1	0
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:120446754G>A	uc003idh.2	-	12	1884	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R535W|PDE5A_uc003idg.2_Missense_Mutation_p.R525W|uc003idi.3_Intron	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448		NA											25	42					0	0	0	0
NPY2R	4887	broad.mit.edu	37	4	156136121	156136121	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:156136121C>G	uc003ioq.2	+	2	1525	c.1030C>G	c.(1030-1032)CAG>GAG	p.Q344E	NPY2R_uc003ior.2_Missense_Mutation_p.Q344E	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	344	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGCTGTGAGCAGCGGTTGGA	0.512		NA											14	71					0	0	0	0
GLRB	2743	broad.mit.edu	37	4	158091726	158091726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:158091726G>C	uc003ipj.2	+	10	1542	c.1340G>C	c.(1339-1341)GGA>GCA	p.G447A		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	447	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTTAACAACGGACTTGGGAAA	0.413		NA											3	47					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187522436	187522436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:187522436T>C	uc003izf.2	-	21	11815	c.11627A>G	c.(11626-11628)TAT>TGT	p.Y3876C		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3876	Extracellular (Potential).|Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAAGATGCTATAGTCAGTTCC	0.388		NA								HNSCC(5;0.00058)			3	27					0	0	0	0
TRIML1	339976	broad.mit.edu	37	4	189068327	189068327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:189068327C>A	uc003izm.1	+	6	1323	c.1208C>A	c.(1207-1209)CCT>CAT	p.P403H	TRIML1_uc003izn.1_Missense_Mutation_p.P127H	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	403	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTCAGAGAGCCTGTGTGTAAG	0.488		NA											21	68					4.35e-09	1.02e-08	1	0
AHRR	57491	broad.mit.edu	37	5	422969	422969	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:422969G>A	uc003jav.2	+	6	623	c.579G>A	c.(577-579)GAG>GAA	p.E193E	AHRR_uc003jaw.2_Silent_p.E189E|AHRR_uc010isy.2_Silent_p.E39E|AHRR_uc010isz.2_Silent_p.E189E|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Silent_p.E49E	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGCCCTTGGAGACAGGTGGGT	0.602		NA											8	32					0	0	0	0
IRX2	153572	broad.mit.edu	37	5	2749089	2749089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:2749089C>T	uc003jda.2	-	3	975	c.733G>A	c.(733-735)GCC>ACC	p.A245T	IRX2_uc003jdb.2_Missense_Mutation_p.A245T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GGGTCCCCGGCGCGGCACGGA	0.701		NA											7	36					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11397213	11397213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:11397213C>G	uc003jfa.1	-	6	687	c.542G>C	c.(541-543)GGG>GCG	p.G181A	CTNND2_uc010itt.2_Missense_Mutation_p.G90A|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	181					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGTGGTTTCCCCCAGGGCCAG	0.607		NA											24	65					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13714614	13714614	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:13714614T>A	uc003jfd.2	-	75	13067	c.13025A>T	c.(13024-13026)AAG>ATG	p.K4342M	DNAH5_uc003jfc.2_Missense_Mutation_p.K510M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4342					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGAGGTGTCCTTGGGTTGGAT	0.607		NA							Kartagener_syndrome				15	76					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23524491	23524491	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:23524491C>G	uc003jgo.2	+	10	1181	c.999C>G	c.(997-999)TTC>TTG	p.F333L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	333	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TGGTGGCCTTCCAGTACCACA	0.537		NA								HNSCC(3;0.000094)			13	57					0	0	0	0
HMGCS1	3157	broad.mit.edu	37	5	43295957	43295957	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:43295957A>T	uc003jnr.3	-	6	1009	c.802T>A	c.(802-804)TGT>AGT	p.C268S	HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Missense_Mutation_p.C268S	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	268					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						ACCAGTTTACAATATGGTGAG	0.353		NA											11	55					0	0	0	0
MCCC2	64087	broad.mit.edu	37	5	70952610	70952610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:70952610C>T	uc003kbs.3	+	17	1753	c.1615C>T	c.(1615-1617)CTG>TTG	p.L539L	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	539	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACACCAGACTGGTCTTGGG	0.413		NA											37	74					0	0	0	0
IQGAP2	10788	broad.mit.edu	37	5	75989261	75989261	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:75989261G>T	uc003kek.2	+	31	4209	c.3987G>T	c.(3985-3987)GCG>GCT	p.A1329A	IQGAP2_uc011csv.1_Silent_p.A825A|IQGAP2_uc003kel.2_Silent_p.A825A|IQGAP2_uc010izw.1_Silent_p.A30A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCAACTGCGCAACAGGTAA	0.363		NA											7	19					5.49e-09	1.27e-08	1	0
VCAN	1462	broad.mit.edu	37	5	82836553	82836553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:82836553C>G	uc003kii.3	+	8	8087	c.7731C>G	c.(7729-7731)ATC>ATG	p.I2577M	VCAN_uc003kij.3_Missense_Mutation_p.I1590M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I1241M	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2577	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATACTATCATAGATATTG	0.358		NA											17	28					0	0	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559200	140559200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140559200G>C	uc011dai.1	+	1	1771	c.1585G>C	c.(1585-1587)GAG>CAG	p.E529Q	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	529	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGGGT	0.677		NA											54	255					0	0	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563937	140563937	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140563937G>C	uc003liv.2	+	1	2958	c.1803G>C	c.(1801-1803)TGG>TGC	p.W601C	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	601	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAATGCCTGGCTGTCGTACC	0.721		NA											52	40					0	0	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594219	140594219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140594219C>G	uc003lja.1	+	1	711	c.524C>G	c.(523-525)CCC>CGC	p.P175R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	175	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATCAGCCCCAACTCCTAT	0.493		NA											25	43					0	0	0	0
MGAT1	4245	broad.mit.edu	37	5	180219088	180219088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:180219088G>T	uc003mmg.3	-	2	1379	c.884C>A	c.(883-885)CCG>CAG	p.P295Q	MGAT1_uc010jlf.2_Missense_Mutation_p.P295Q|MGAT1_uc010jlg.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmh.3_Missense_Mutation_p.P295Q|MGAT1_uc010jlh.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmi.3_Missense_Mutation_p.P295Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	295	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCTCCGGCCGCCGCAT	0.647		NA											17	12					3.88e-16	9.64e-16	1	0
MRS2	57380	broad.mit.edu	37	6	24423169	24423169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:24423169A>G	uc003neb.2	+	10	1234	c.1112A>G	c.(1111-1113)CAT>CGT	p.H371R	MRS2_uc003nea.2_Missense_Mutation_p.H371R|MRS2_uc011djl.1_Missense_Mutation_p.H374R|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.H321R|MRS2_uc003nec.2_Missense_Mutation_p.H248R	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	371	Mitochondrial intermembrane (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						TTTTAGGACCATAGAATTTTT	0.438		NA											40	58					0	0	0	0
C6orf25	80739	broad.mit.edu	37	6	31692374	31692374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31692374C>A	uc011doc.1	+	4	511	c.511C>A	c.(511-513)CCG>ACG	p.P171T	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.P171T|C6orf25_uc011dod.1_Intron|C6orf25_uc011doe.1_Silent_p.P140P|C6orf25_uc003nwo.2_Intron|C6orf25_uc003nwn.2_Missense_Mutation_p.P171T	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	171	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						GCGCCTGCCCCCGCAACCGAT	0.542		NA											14	86					2.23e-06	4.87e-06	1	0
EHMT2	10919	broad.mit.edu	37	6	31864040	31864040	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31864040C>T	uc003nxz.1	-	4	592	c.582G>A	c.(580-582)CAG>CAA	p.Q194Q	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Silent_p.Q251Q|EHMT2_uc003nya.1_Silent_p.Q194Q|EHMT2_uc003nyb.1_Silent_p.Q194Q|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	194					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						TCCCACTCACCTGTCCATTTC	0.493		NA											44	62					0	0	0	0
TDRD6	221400	broad.mit.edu	37	6	46660541	46660541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:46660541C>A	uc003oyj.2	+	1	4676	c.4676C>A	c.(4675-4677)GCA>GAA	p.A1559E	TDRD6_uc010jze.2_Missense_Mutation_p.A1553E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1559					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GAACAGGTAGCAGACAGGAGA	0.388		NA											6	47					1.07e-07	2.41e-07	1	0
RFX6	222546	broad.mit.edu	37	6	117240431	117240431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:117240431G>A	uc003pxm.2	+	11	1217	c.1154G>A	c.(1153-1155)CGA>CAA	p.R385Q		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TCTCTGAAACGACAAACATCT	0.363		NA											9	43					0	0	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761863	130761863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:130761863C>T	uc003qca.2	+	3	1167	c.296C>T	c.(295-297)ACA>ATA	p.T99I	TMEM200A_uc010kfh.2_Missense_Mutation_p.T99I|TMEM200A_uc010kfi.2_Missense_Mutation_p.T99I|TMEM200A_uc003qcb.2_Missense_Mutation_p.T99I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	99	Extracellular (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGTCAACAAATGAAACT	0.418		NA											27	42					0	0	0	0
C6orf118	168090	broad.mit.edu	37	6	165715309	165715309	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165715309G>T	uc003qum.3	-	2	538	c.502C>A	c.(502-504)CCT>ACT	p.P168T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	168											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CATCCAGGAGGGCCCCGTCCA	0.622		NA											33	42					8.42e-14	2.05e-13	1	0
PDE10A	10846	broad.mit.edu	37	6	165832125	165832125	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165832125T>C	uc003qun.2	-	12	1207	c.966A>G	c.(964-966)ATA>ATG	p.I322M	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I252M|PDE10A_uc003quo.2_Missense_Mutation_p.I332M	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	322	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCTGTACCTTATCTCTTTGG	0.413		NA											19	29					0	0	0	0
MLLT4	4301	broad.mit.edu	37	6	168344628	168344628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:168344628G>A	uc003qwd.2	+	25	3365	c.3223G>A	c.(3223-3225)GAA>AAA	p.E1075K	MLLT4_uc003qwb.1_Missense_Mutation_p.E1060K|MLLT4_uc003qwc.1_Missense_Mutation_p.E1076K|MLLT4_uc003qwg.1_Missense_Mutation_p.E385K	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1076	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCGGCAGAACTCATGAC	0.478		NA	T	MLL	AL								25	38					0	0	0	0
MIOS	54468	broad.mit.edu	37	7	7622858	7622858	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:7622858G>A	uc003srf.2	+	6	1811	c.1503G>A	c.(1501-1503)AAG>AAA	p.K501K	MIOS_uc003srg.2_Silent_p.K36K|MIOS_uc010ktq.2_5'Flank	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	501											0						GGTGGATAAAGAAAGGAACGG	0.413		NA											6	84					0	0	0	0
TBRG4	9238	broad.mit.edu	37	7	45141455	45141455	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:45141455G>A	uc003tmv.2	-	8	1662	c.1536C>T	c.(1534-1536)CTC>CTT	p.L512L	TBRG4_uc003tmu.2_Silent_p.L337L|TBRG4_uc003tmw.2_Silent_p.L402L|TBRG4_uc003tmx.2_Silent_p.L402L|TBRG4_uc011kcd.1_Silent_p.L523L	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	512					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						TGGCCACCTCGAGGCTGCCCT	0.662		NA											15	62					0	0	0	0
CALN1	83698	broad.mit.edu	37	7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:71571178C>T	uc003twa.3	-	3	747	c.220G>A	c.(220-222)GAG>AAG	p.E74K	CALN1_uc003twb.3_Missense_Mutation_p.E116K|CALN1_uc003twc.3_Missense_Mutation_p.E74K	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	74	EF-hand 2.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597		NA											4	44					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82580057	82580057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:82580057G>C	uc003uhx.2	-	6	10136	c.9847C>G	c.(9847-9849)CAG>GAG	p.Q3283E	PCLO_uc003uhv.2_Missense_Mutation_p.Q3283E|PCLO_uc010lec.2_Missense_Mutation_p.Q248E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3214	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AACGTCTCCTGCCTCATCATG	0.483		NA											19	175					0	0	0	0
SAMD9	54809	broad.mit.edu	37	7	92733867	92733867	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92733867C>A	uc003umf.2	-	3	1800	c.1544G>T	c.(1543-1545)AGA>ATA	p.R515I	SAMD9_uc003umg.2_Missense_Mutation_p.R515I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	515						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTCTTTCTCTTTGCCAGGA	0.388		NA											15	156					1.36e-06	3e-06	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762801	92762801	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92762801T>C	uc003umh.1	-	5	3700	c.2484A>G	c.(2482-2484)CGA>CGG	p.R828R	SAMD9L_uc003umj.1_Silent_p.R828R|SAMD9L_uc003umi.1_Silent_p.R828R|SAMD9L_uc010lfb.1_Silent_p.R828R|SAMD9L_uc003umk.1_Silent_p.R828R|SAMD9L_uc010lfc.1_Silent_p.R828R|SAMD9L_uc010lfd.1_Silent_p.R828R|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATATCGCAAATCCT	0.358		NA											93	58					0	0	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837946	92837946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92837946T>C	uc003umm.2	-	4	982	c.959A>G	c.(958-960)AAC>AGC	p.N320S	HEPACAM2_uc003uml.2_Missense_Mutation_p.N308S|HEPACAM2_uc010lff.2_Missense_Mutation_p.N308S|HEPACAM2_uc011khy.1_Missense_Mutation_p.N343S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	320	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						GCCGGTTATGTTGTTGTAAGC	0.408		NA											11	159					0	0	0	0
TMEM130	222865	broad.mit.edu	37	7	98449123	98449123	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:98449123C>T	uc003upo.2	-	6	1116	c.927G>A	c.(925-927)GGG>GGA	p.G309G	TMEM130_uc011kiq.1_Silent_p.G290G|TMEM130_uc011kir.1_Silent_p.G309G|TMEM130_uc003upn.2_Silent_p.G207G	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	309	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAGTCCCCAGGGTCCC	0.592		NA											61	42					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:100681963T>C	uc003uxp.1	+	3	7319	c.7266T>C	c.(7264-7266)GTT>GTC	p.V2422V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2422	Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512		NA											5	926					0	0	0	0
C7orf60	154743	broad.mit.edu	37	7	112555359	112555359	+	Splice_Site	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:112555359A>G	uc003vgo.1	-	2	429	c.302_splice	c.e2+1	p.S101_splice	C7orf60_uc011kms.1_Splice_Site_p.S127_splice	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743											ovary(2)|skin(1)	3						AAAAGTACTTACCTACAACAC	0.259		NA											32	52					0	0	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874864	117874864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:117874864G>A	uc003vji.2	+	3	577	c.404G>A	c.(403-405)GGT>GAT	p.G135D		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	135	ANK 3.				male gonad development						0						GCTGTTTGTGGTCAAAGTTTG	0.333		NA											24	43					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192549	132192549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:132192549G>C	uc003vra.3	-	2	1133	c.904C>G	c.(904-906)CGC>GGC	p.R302G	PLXNA4_uc003vrc.2_Missense_Mutation_p.R302G|PLXNA4_uc003vrb.2_Missense_Mutation_p.R302G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	302	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACCCCACTGCGCTCACAGCCA	0.592		NA											11	41					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141794549	141794549	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:141794549G>T	uc003vwy.2	+	40	4710	c.4656G>T	c.(4654-4656)ACG>ACT	p.T1552T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1552	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCAGACGGGAGCAGATA	0.473		NA											8	46					1.07e-07	2.41e-07	1	0
KCNH2	3757	broad.mit.edu	37	7	150647315	150647315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:150647315T>A	uc003wic.2	-	9	2352	c.2339A>T	c.(2338-2340)TAC>TTC	p.Y780F	KCNH2_uc003wib.2_Missense_Mutation_p.Y440F|KCNH2_uc011kux.1_Missense_Mutation_p.Y684F|KCNH2_uc003wid.2_Missense_Mutation_p.Y440F|KCNH2_uc003wie.2_Missense_Mutation_p.Y780F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	780	Cytoplasmic (Potential).|cNMP.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGAGATGAAGTACAGGGCGGT	0.652		NA											12	128					0	0	0	0
SGCZ	137868	broad.mit.edu	37	8	13948034	13948034	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:13948034C>G	uc003wwq.2	-	8	1517	c.857G>C	c.(856-858)TGC>TCC	p.C286S	SGCZ_uc010lss.2_Missense_Mutation_p.C239S	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	273	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATTGGGGCAGACGCAGAG	0.498		NA											15	69					0	0	0	0
STC1	6781	broad.mit.edu	37	8	23702425	23702425	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:23702425T>G	uc003xdw.1	-	4	886	c.602A>C	c.(601-603)CAC>CCC	p.H201P		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	201					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTGGGCACAGTGGTCTGTCTG	0.542		NA											13	48					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39682379	39682379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:39682379T>C	uc003xnj.2	-	4	301	c.226A>G	c.(226-228)AGT>GGT	p.S76G	ADAM2_uc003xnk.2_Missense_Mutation_p.S76G|ADAM2_uc011lck.1_Missense_Mutation_p.S76G|ADAM2_uc003xnl.2_Missense_Mutation_p.S76G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	76					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTGCCACTATAACTGTAA	0.274		NA											8	30					0	0	0	0
CHRNB3	1142	broad.mit.edu	37	8	42563960	42563960	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:42563960T>C	uc003xpi.1	+	2	281	c.153T>C	c.(151-153)AAT>AAC	p.N51N		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	51	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TACATTCTAATGACACCATAA	0.408		NA											32	56					0	0	0	0
ASPH	444	broad.mit.edu	37	8	62438587	62438587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:62438587C>T	uc003xuj.2	-	22	2118	c.1849G>A	c.(1849-1851)GAA>AAA	p.E617K	ASPH_uc011leg.1_Missense_Mutation_p.E588K	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	617	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCAGGTTTTCATCCTCAGGC	0.483		NA											47	113					0	0	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242004	87242004	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:87242004A>G	uc003ydq.1	-	1	601	c.503T>C	c.(502-504)GTG>GCG	p.V168A	SLC7A13_uc003ydr.1_Missense_Mutation_p.V168A	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	168	Helical; Name=5; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						AAGTATGGACACTTTCAGCAC	0.418		NA											17	72					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113301698	113301698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:113301698G>T	uc003ynu.2	-	57	9203	c.9044C>A	c.(9043-9045)TCT>TAT	p.S3015Y	CSMD3_uc003yns.2_Missense_Mutation_p.S2217Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2975Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S2846Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3015	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTGAACAGTAGACCCAAAAGT	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	67					6.33e-15	1.56e-14	1	0
ASAP1	50807	broad.mit.edu	37	8	131070203	131070203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:131070203C>A	uc003yta.1	-	28	3340	c.3312G>T	c.(3310-3312)TGG>TGT	p.W1104C	ASAP1_uc003ysz.1_Missense_Mutation_p.W915C|ASAP1_uc011liw.1_Missense_Mutation_p.W1097C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1104	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TACGTACCCACCACTCCTGGT	0.512		NA											68	94					6.21e-33	1.58e-32	1	0
COL22A1	169044	broad.mit.edu	37	8	139728521	139728521	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:139728521G>T	uc003yvd.2	-	29	2859	c.2412C>A	c.(2410-2412)GGC>GGA	p.G804G	COL22A1_uc011ljo.1_Silent_p.G104G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	804	Pro-rich.|Gly-rich.|Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCTGGGAGGCCTGCTTCTC	0.587		NA								HNSCC(7;0.00092)			3	12					6.4e-05	0.0001341	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:21971029C>T	uc003zpk.2	-	2	541	c.329G>A	c.(328-330)TGG>TAG	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			42	19					0	0	0	0
DNAI1	27019	broad.mit.edu	37	9	34490414	34490414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:34490414C>A	uc003zum.2	+	7	742	c.549C>A	c.(547-549)CCC>CCA	p.P183P		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	183					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTAAGCAGCCCAAGGAGAGAA	0.498		NA							Kartagener_syndrome				230	120					5.96e-76	1.54e-75	1	0
TJP2	9414	broad.mit.edu	37	9	71845073	71845073	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71845073G>C	uc004ahe.2	+	11	1796	c.1596G>C	c.(1594-1596)GGG>GGC	p.G532G	TJP2_uc011lrs.1_Silent_p.G509G|TJP2_uc011lrt.1_Silent_p.G509G|TJP2_uc004ahd.2_Silent_p.G532G|TJP2_uc004ahf.2_Silent_p.G532G|TJP2_uc011lru.1_Silent_p.G536G|TJP2_uc011lrv.1_Silent_p.G554G	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	532	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						ATGATGTCGGGATATTTGTTG	0.517		NA											40	67					0	0	0	0
TJP2	9414	broad.mit.edu	37	9	71866155	71866155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71866155G>T	uc004ahe.2	+	21	3396	c.3196G>T	c.(3196-3198)GAG>TAG	p.E1066*	TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Nonsense_Mutation_p.E1033*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E1088*|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1066					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGAGGTGGGAGAGAGCAGTGA	0.502		NA											17	35					8.6e-14	2.1e-13	1	0
TRPM6	140803	broad.mit.edu	37	9	77436731	77436731	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:77436731G>T	uc004ajl.1	-	8	1102	c.864C>A	c.(862-864)GTC>GTA	p.V288V	TRPM6_uc004ajk.1_Silent_p.V283V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.V288V|TRPM6_uc010mpd.1_Silent_p.V288V|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	288	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CCAGCCCCACGACCGGCACGC	0.572		NA											19	29					5.04e-11	1.2e-10	1	0
PTPN3	5774	broad.mit.edu	37	9	112189263	112189263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:112189263T>G	uc004bed.2	-	12	1080	c.968A>C	c.(967-969)CAG>CCG	p.Q323P	PTPN3_uc004beb.2_Missense_Mutation_p.Q192P|PTPN3_uc004bec.2_Missense_Mutation_p.Q192P|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Q323P|PTPN3_uc011lwh.1_Missense_Mutation_p.Q214P|PTPN3_uc011lwe.1_Missense_Mutation_p.Q36P|PTPN3_uc011lwf.1_Missense_Mutation_p.Q36P	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	323					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGTCCAGTACTGAGACAGAAC	0.438		NA											37	43					0	0	0	0
PTGS1	5742	broad.mit.edu	37	9	125154726	125154726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:125154726G>T	uc004bmg.1	+	11	1838	c.1703G>T	c.(1702-1704)TGC>TTC	p.C568F	PTGS1_uc011lys.1_Missense_Mutation_p.C506F|PTGS1_uc010mwb.1_Missense_Mutation_p.C422F|PTGS1_uc004bmf.1_Missense_Mutation_p.C531F|PTGS1_uc004bmh.1_Missense_Mutation_p.C459F|PTGS1_uc011lyt.1_Missense_Mutation_p.C459F	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	568					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AAGCTGGTCTGCCTCAACACC	0.577		NA											40	65					1.5e-21	3.77e-21	1	0
PKN3	29941	broad.mit.edu	37	9	131482522	131482522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:131482522A>G	uc004bvw.2	+	21	2810	c.2417A>G	c.(2416-2418)GAG>GGG	p.E806G	PKN3_uc010myh.2_Intron|PKN3_uc011mbk.1_Missense_Mutation_p.E356G	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	806	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GGGGCAGGTGAGCAGGATGCC	0.642		NA											21	20					0	0	0	0
ABL1	25	broad.mit.edu	37	9	133738362	133738362	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:133738362G>A	uc004bzw.2	+	4	765	c.762G>A	c.(760-762)GGG>GGA	p.G254G	ABL1_uc004bzv.2_Silent_p.G273G|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	254	Protein kinase.|ATP.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCAGTACGGGGAGGTGTACG	0.617		NA	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								10	40					0	0	0	0
CYBB	1536	broad.mit.edu	37	X	37651299	37651299	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:37651299T>C	uc004ddr.2	+	4	385	c.324T>C	c.(322-324)ATT>ATC	p.I108I	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.I76I|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	108	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CATGGATGATTGCACTTCACT	0.383		NA											5	12					0	0	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411200	83411200	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:83411200C>A	uc004eej.1	-	3	219	c.142_splice	c.e3-1	p.D48_splice	RPS6KA6_uc011mqt.1_Splice_Site_p.D48_splice|RPS6KA6_uc011mqu.1_Splice_Site|RPS6KA6_uc010nmo.1_Splice_Site	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						CTCCTTCATCCTGTAAAAAGA	0.358		NA											5	6					0.00116845	0.00233152	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177580	89177580	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:89177580C>A	uc004efe.2	+	2	545	c.496C>A	c.(496-498)CAG>AAG	p.Q166K		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCCAAAGGGCCAGATGTCAAG	0.592		NA											11	21					6.4e-05	0.0001341	1	0
RBM41	55285	broad.mit.edu	37	X	106312633	106312633	+	Splice_Site	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:106312633C>G	uc004emz.2	-	6	959	c.928_splice	c.e6-1	p.V310_splice	RBM41_uc004emy.1_Splice_Site_p.V310_splice	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								nucleotide binding|RNA binding			ovary(1)	1						GGTATAATACCTAAAACAAAT	0.313		NA											37	65					0	0	0	0
DCX	1641	broad.mit.edu	37	X	110576307	110576307	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:110576307A>T	uc004epd.2	-	4	1195	c.1023T>A	c.(1021-1023)GCT>GCA	p.A341A	DCX_uc011msv.1_Silent_p.A341A|DCX_uc004epe.2_Silent_p.A260A|DCX_uc004epf.2_Silent_p.A260A|DCX_uc004epg.2_Silent_p.A260A	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	341	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						AATCATCCTGAGCATAGCGAA	0.393		NA											8	5					0	0	0	0
ATP1B4	23439	broad.mit.edu	37	X	119509289	119509289	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:119509289C>A	uc004esr.2	+	5	709	c.625C>A	c.(625-627)CAA>AAA	p.Q209K	ATP1B4_uc004esq.2_Missense_Mutation_p.Q205K|ATP1B4_uc011mtx.1_Missense_Mutation_p.Q174K|ATP1B4_uc011mty.1_Missense_Mutation_p.Q166K	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	209	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						GTACTTCATCCAAGATGGCAA	0.458		NA											109	34					2.34e-34	6.01e-34	1	0
BCORL1	63035	broad.mit.edu	37	X	129154964	129154964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:129154964G>T	uc004evb.1	+	5	3560	c.3446G>T	c.(3445-3447)CGG>CTG	p.R1149L	BCORL1_uc010nrd.1_Missense_Mutation_p.R1051L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCACAGTGCCGGAAGCTGCCC	0.552		NA											41	16					8.01e-26	2.03e-25	1	0
IGSF1	3547	broad.mit.edu	37	X	130408088	130408088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:130408088C>A	uc004ewd.2	-	19	4082	c.3844G>T	c.(3844-3846)GAG>TAG	p.E1282*	IGSF1_uc004ewe.3_Nonsense_Mutation_p.E1276*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.E1262*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1282	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TTCTTCCACTCTATGGCTAGC	0.502		NA											120	84					2.28e-34	5.87e-34	1	0
CXorf66	347487	broad.mit.edu	37	X	139038574	139038574	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:139038574T>C	uc004fbb.2	-	3	589	c.567A>G	c.(565-567)GAA>GAG	p.E189E		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	189	Cytoplasmic (Potential).					integral to membrane					0						TACATAATTTTTCTAGGCTGC	0.413		NA											25	125					0	0	0	0
EIF2C3	192669	broad.mit.edu	37	1	36509068	36509068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:36509068delC	uc001bzp.2	+	17	2449	c.2193delC	c.(2191-2193)ATCfs	p.I731fs	EIF2C3_uc001bzq.2_Frame_Shift_Del_p.I497fs	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	731	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGCAATATCCCAGCTGGAA	0.353		NA											14	25	---	---	---	---	NA	NA	NA	NA
CELSR2	1952	broad.mit.edu	37	1	109815846	109815858	+	Frame_Shift_Del	DEL	AGAGAGTAGTGGC	AGAGAGTAGTGGC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:109815846_109815858delAGAGAGTAGTGGC	uc001dxa.3	+	32	8458_8470	c.8397_8409delAGAGAGTAGTGGC	c.(8395-8409)AAAGAGAGTAGTGGCfs	p.K2799fs		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2799_2803	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC	0.638		NA											16	72	---	---	---	---	NA	NA	NA	NA
FLG	2312	broad.mit.edu	37	1	152277899	152277899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152277899delG	uc001ezu.1	-	3	9499	c.9463delC	c.(9463-9465)CAGfs	p.Q3155fs		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3155	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)			GATCCTGACTGCCCACGGGAG	0.557		NA							Ichthyosis				30	225	---	---	---	---	NA	NA	NA	NA
FLG	2312	broad.mit.edu	37	1	152278871	152278871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278871delG	uc001ezu.1	-	3	8527	c.8491delC	c.(8491-8493)CAGfs	p.Q2831fs		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2831	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)			GATCCTGACTGCCCACGGGAG	0.572		NA							Ichthyosis				66	671	---	---	---	---	NA	NA	NA	NA
C1orf186	440712	broad.mit.edu	37	1	206243246	206243247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:206243246_206243247insG	uc001hdt.1	-	3	654_655	c.15_16insC	c.(13-18)GTCATGfs	p.V5fs		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	5_6						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACCTCCATGACTCTGTTGG	0.332		NA											10	68	---	---	---	---	NA	NA	NA	NA
TROAP	10024	broad.mit.edu	37	12	49722998	49722998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49722998delC	uc001rtx.3	+	10	1242	c.1075delC	c.(1075-1077)CCCfs	p.P359fs	TROAP_uc009zlh.2_Frame_Shift_Del_p.P359fs|TROAP_uc001rty.2_Frame_Shift_Del_p.P67fs	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	359					cell adhesion	cytoplasm				ovary(1)	1						CCGGTTCACACCCATGCCATC	0.547		NA											40	227	---	---	---	---	NA	NA	NA	NA
FREM2	341640	broad.mit.edu	37	13	39343779	39343793	+	In_Frame_Del	DEL	AGTGCAGTTCAACCC	AGTGCAGTTCAACCC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39343779_39343793delAGTGCAGTTCAACCC	uc001uwv.2	+	4	5784_5798	c.5475_5489delAGTGCAGTTCAACCC	c.(5473-5490)CAAGTGCAGTTCAACCCA>CAA	p.VQFNP1826del	FREM2_uc001uww.2_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1826_1830	Calx-beta 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC	0.479		NA											8	46	---	---	---	---	NA	NA	NA	NA
RILP	83547	broad.mit.edu	37	17	1552568	1552570	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:1552568_1552570delCCT	uc002ftd.2	-	3	647_649	c.353_355delAGG	c.(352-357)GAGGTC>GTC	p.E118del		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	118	Potential.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGTCCGTGACCTCCTTGAGCTG	0.542		NA											4	3	---	---	---	---	NA	NA	NA	NA
RAD51C	5889	broad.mit.edu	37	17	56772501	56772501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56772501delA	uc002iwu.2	+	2	397	c.355delA	c.(355-357)AAAfs	p.K119fs	RAD51C_uc002iwt.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010woa.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	119					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCTTAATGAAAACAACAGA	0.398		NA						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				15	30	---	---	---	---	NA	NA	NA	NA
ATP6V1C2	245973	broad.mit.edu	37	2	10912735	10912738	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:10912735_10912738delAAGT	uc002ras.2	+	8	747	c.638_splice	c.e8+1	p.K213_splice	ATP6V1C2_uc002rat.2_Splice_Site_p.K213_splice	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCGATCAACCAAGTAAGTGAGACC	0.525		NA											47	254	---	---	---	---	NA	NA	NA	NA
APOB	338	broad.mit.edu	37	2	21231819	21231819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21231819delT	uc002red.2	-	26	8049	c.7921delA	c.(7921-7923)ATCfs	p.I2641fs		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGATGGGATTTTTATATTT	0.358		NA											19	122	---	---	---	---	NA	NA	NA	NA
LAMA4	3910	broad.mit.edu	37	6	112512959	112512959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:112512959delA	uc003pvu.2	-	6	906	c.597delT	c.(595-597)TTTfs	p.F199fs	LAMA4_uc003pvv.2_Frame_Shift_Del_p.F199fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.F199fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	199	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACAATCTTCAAAGATCAGGT	0.483		NA											11	34	---	---	---	---	NA	NA	NA	NA
RELN	5649	broad.mit.edu	37	7	103126741	103126742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:103126741_103126742insA	uc003vca.2	-	61	10045_10046	c.9885_9886insT	c.(9883-9888)TGTGGGfs	p.C3295fs	RELN_uc010liz.2_Frame_Shift_Ins_p.C3295fs	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3295_3296					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGCTGCCCACAGCCACTTC	0.515		NA											64	82	---	---	---	---	NA	NA	NA	NA
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:107977802_107977803insC	uc004eoc.2	-	1	1805_1806	c.1772_1773insG	c.(1771-1773)GGCfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGAGCCTTTGCCCCCCCCAGA	0.545		NA											7	331	---	---	---	---	NA	NA	NA	NA
