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
AKR7A2	8574	broad.mit.edu	37	1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:19632583C>T	uc001bbw.2	-	6	869	c.847G>A	c.(847-849)GCA>ACA	p.A283T	AKR7A2_uc001bbx.2_Missense_Mutation_p.A248T	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	283					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632000												
SLC9A1	6548	broad.mit.edu	37	1	27434258	27434258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:27434258C>T	uc001bnm.2	-	4	1789	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	SLC9A1_uc010ofk.1_Missense_Mutation_p.S49N|SLC9A1_uc001bnn.2_Missense_Mutation_p.S388N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	388					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTCGCTGACGCTGCTCCACAT	0.582000												
RBBP4	5928	broad.mit.edu	37	1	33134400	33134400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:33134400G>A	uc001bvr.2	+	5	704	c.545G>A	c.(544-546)GGG>GAG	p.G182E	RBBP4_uc001bvs.2_Missense_Mutation_p.G181E|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.G147E	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	182	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GAAGGCTATGGGCTTTCTTGG	0.488000												
RLF	6018	broad.mit.edu	37	1	40703533	40703533	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:40703533G>T	uc001cfc.3	+	8	3190	c.3159G>T	c.(3157-3159)AGG>AGT	p.R1053S	RLF_uc001cfd.3_Missense_Mutation_p.R744S	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1053					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTAAAAGGCCCTGTACAG	0.398000												
SLFNL1	200172	broad.mit.edu	37	1	41483646	41483646	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:41483646G>A	uc001cgm.1	-	3	838	c.618C>T	c.(616-618)ATC>ATT	p.I206I	SLFNL1_uc009vwf.1_Silent_p.I206I|SLFNL1_uc001cgn.1_Silent_p.I147I|SLFNL1_uc009vwg.1_Silent_p.I206I	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	206							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCTTGCCCACGATCTGCTGGT	0.657000												
PIK3R3	8503	broad.mit.edu	37	1	46597556	46597556	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:46597556C>T	uc001cpb.3	-	1	825	c.69G>A	c.(67-69)TCG>TCA	p.S23S	PIK3R3_uc009vyb.2_Silent_p.S23S|PIK3R3_uc009vyc.2_Silent_p.S40S|PIK3R3_uc001cpc.3_Silent_p.S23S|PIK3R3_uc010olw.1_Intron	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	23					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TCAGTTCTGTCGAATAGGGCA	0.463000												
WDR78	79819	broad.mit.edu	37	1	67356850	67356850	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:67356850C>T	uc001dcx.2	-	4	686	c.630G>A	c.(628-630)TTG>TTA	p.L210L	WDR78_uc001dcy.2_Silent_p.L210L|WDR78_uc001dcz.2_Silent_p.L210L|WDR78_uc009wax.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	210										ovary(2)	2						TGAAACTAGTCAATCTTTCCC	0.343000												
SLC35D1	23169	broad.mit.edu	37	1	67512967	67512967	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:67512967T>G	uc001ddk.2	-	7	1001	c.617A>C	c.(616-618)AAA>ACA	p.K206T	SLC35D1_uc010oph.1_Missense_Mutation_p.K127T	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	206					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	TAATTTTTGTTTTACGTATGC	0.353000												
COL24A1	255631	broad.mit.edu	37	1	86355275	86355275	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:86355275T>G	uc001dlj.2	-	32	2986	c.2944A>C	c.(2944-2946)AGT>CGT	p.S982R	COL24A1_uc001dli.2_Missense_Mutation_p.S118R|COL24A1_uc010osd.1_Missense_Mutation_p.S282R|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	982	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGTACTTCCAGGCAAT	0.373000												
HFM1	164045	broad.mit.edu	37	1	91850767	91850767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:91850767G>A	uc001doa.3	-	6	879	c.779C>T	c.(778-780)TCC>TTC	p.S260F	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.S260F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	260							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCCTTCAAGGAACCTAAACC	0.254000												
AP4B1	10717	broad.mit.edu	37	1	114437899	114437899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:114437899C>T	uc001eeb.2	-	10	2151	c.2008G>A	c.(2008-2010)GCA>ACA	p.A670T	uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.A502T|AP4B1_uc001eed.2_Missense_Mutation_p.A670T|AP4B1_uc010owp.1_Missense_Mutation_p.A571T|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	670					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTCATTGCGATGGTCTGG	0.502000												
TDRD10	126668	broad.mit.edu	37	1	154516536	154516536	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:154516536A>G	uc009wow.2	+	9	1439	c.601A>G	c.(601-603)ACG>GCG	p.T201A	TDRD10_uc001ffd.2_Missense_Mutation_p.T201A|TDRD10_uc001ffe.2_Missense_Mutation_p.T122A	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	201							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGCTGGTGACGAGTATCGT	0.622000												
CD1E	913	broad.mit.edu	37	1	158324409	158324409	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158324409T>G	uc001fse.2	+	2	540	c.301T>G	c.(301-303)TTC>GTC	p.F101V	CD1E_uc010pid.1_Missense_Mutation_p.F99V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F101V|CD1E_uc001fsk.2_Missense_Mutation_p.F101V|CD1E_uc001fsj.2_Missense_Mutation_p.F101V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F101V|CD1E_uc001fry.2_Missense_Mutation_p.F101V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F101V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F101V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	101					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCAGTTATACTTCCATAGTTT	0.453000												
OR10Z1	128368	broad.mit.edu	37	1	158576892	158576892	+	Silent	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158576892T>C	uc010pio.1	+	1	664	c.664T>C	c.(664-666)TTG>CTG	p.L222L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					CGCCTACATCTTGGCAGCAAT	0.512000												
SPTA1	6708	broad.mit.edu	37	1	158606534	158606534	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158606534A>C	uc001fst.1	-	37	5406	c.5207T>G	c.(5206-5208)GTG>GGG	p.V1736G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1736	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGGGAGCTCACTCGTATCAA	0.473000												
CADM3	57863	broad.mit.edu	37	1	159169651	159169651	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:159169651T>G	uc001ftl.2	+	8	1205	c.1063T>G	c.(1063-1065)TTG>GTG	p.L355V	CADM3_uc001ftk.2_Missense_Mutation_p.L389V|uc001ftm.1_Splice_Site	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	355	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TGGCCACTACTTGATCCGGCA	0.567000												
FCRLA	84824	broad.mit.edu	37	1	161682977	161682977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:161682977C>T	uc001gbe.2	+	6	1198	c.956C>T	c.(955-957)CCG>CTG	p.P319L	FCRLA_uc001gbd.2_Missense_Mutation_p.P313L|FCRLA_uc001gbf.2_Missense_Mutation_p.P224L|FCRLA_uc001gbg.2_Missense_Mutation_p.P173L|FCRLA_uc009wuo.2_Missense_Mutation_p.P179L|FCRLA_uc009wup.2_Missense_Mutation_p.P129L|FCRLA_uc009wuq.2_Missense_Mutation_p.P78L	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	296	Pro-rich.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGCCTCCGCCGCCAACCCCA	0.572000												
PIGC	5279	broad.mit.edu	37	1	172411186	172411186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:172411186G>A	uc001gil.2	-	2	858	c.577C>T	c.(577-579)CTT>TTT	p.L193F	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.L193F|PIGC_uc001gio.2_Missense_Mutation_p.L193F	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	193					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GACCGGGGAAGACGTGATGCC	0.483000												
TNFSF18	8995	broad.mit.edu	37	1	173010835	173010835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:173010835C>T	uc001giu.2	-	3	273	c.272G>A	c.(271-273)TGG>TAG	p.W91*		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily,	91	Extracellular (Potential).				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1						TGCCATTTGCCATTTTGAGGG	0.348000												
CR2	1380	broad.mit.edu	37	1	207640231	207640231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:207640231C>T	uc001hfw.2	+	2	513	c.419C>T	c.(418-420)CCG>CTG	p.P140L	CR2_uc001hfv.2_Missense_Mutation_p.P140L|CR2_uc009xch.2_Missense_Mutation_p.P140L	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	140	Sushi 2.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						ATGTGGGGGCCGACACGACTA	0.478000												
CENPF	1063	broad.mit.edu	37	1	214814102	214814102	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:214814102G>T	uc001hkm.2	+	12	2595	c.2421G>T	c.(2419-2421)ATG>ATT	p.M807I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	807					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGGAAGCATGCCTTCAGAGA	0.393000												
ESRRG	2104	broad.mit.edu	37	1	216692753	216692753	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:216692753C>T	uc001hkw.1	-	6	1039	c.873G>A	c.(871-873)ACG>ACA	p.T291T	ESRRG_uc001hky.1_Silent_p.T268T|ESRRG_uc009xdp.1_Silent_p.T268T|ESRRG_uc001hkz.1_Silent_p.T229T|ESRRG_uc010puc.1_Silent_p.T268T|ESRRG_uc001hla.1_Silent_p.T268T|ESRRG_uc001hlb.1_Silent_p.T268T|ESRRG_uc010pud.1_Silent_p.T99T|ESRRG_uc001hlc.1_Silent_p.T268T|ESRRG_uc001hld.1_Silent_p.T268T|ESRRG_uc001hkx.1_Silent_p.T303T|ESRRG_uc009xdo.1_Silent_p.T268T|ESRRG_uc001hle.1_Silent_p.T268T	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	291					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAGGGACAGCGTGGAGAAGC	0.453000												
EPRS	2058	broad.mit.edu	37	1	220193402	220193402	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:220193402A>T	uc001hly.1	-	10	1547	c.1277T>A	c.(1276-1278)CTA>CAA	p.L426Q	EPRS_uc010puf.1_Missense_Mutation_p.L177Q|EPRS_uc001hlz.1_Missense_Mutation_p.L426Q|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	426	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GTTGAGATTTAGCCGACTATA	0.363000												
KIAA1804	84451	broad.mit.edu	37	1	233498012	233498012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:233498012G>A	uc001hvt.3	+	5	1786	c.1525G>A	c.(1525-1527)GAT>AAT	p.D509N	KIAA1804_uc001hvs.1_Missense_Mutation_p.D509N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	509					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAAGCTCAAAGATGGACATCG	0.378000												
AHCTF1	25909	broad.mit.edu	37	1	247054343	247054343	+	Silent	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:247054343A>G	uc001ibu.1	-	15	1972	c.1965T>C	c.(1963-1965)AAT>AAC	p.N655N	AHCTF1_uc001ibv.1_Silent_p.N664N|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	655	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCACAAACTTATTGCTTAAGT	0.353000												
ZNF670	93474	broad.mit.edu	37	1	247201286	247201286	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:247201286A>C	uc001icd.1	-	4	806	c.635T>G	c.(634-636)CTT>CGT	p.L212R	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	212	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATGTTCACGAAGATAACTTGA	0.348000												
OR2L3	391192	broad.mit.edu	37	1	248224727	248224727	+	Silent	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:248224727T>C	uc001idx.1	+	1	744	c.744T>C	c.(742-744)ACT>ACC	p.T248T	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGTAGTAACTTTCTACTATG	0.502000												
CUBN	8029	broad.mit.edu	37	10	17087092	17087092	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:17087092T>G	uc001ioo.2	-	25	3638	c.3586A>C	c.(3586-3588)AAA>CAA	p.K1196Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1196	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCTAGATTTCAACCACCAG	0.463000												
NRG3	10718	broad.mit.edu	37	10	84744903	84744903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:84744903C>T	uc001kco.2	+	9	1660	c.1633C>T	c.(1633-1635)CAA>TAA	p.Q545*	NRG3_uc010qlz.1_Nonsense_Mutation_p.Q544*|NRG3_uc001kcp.2_Nonsense_Mutation_p.Q348*|NRG3_uc001kcq.2_Nonsense_Mutation_p.Q195*|NRG3_uc001kcr.2_Nonsense_Mutation_p.Q219*	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	569	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATAAATATGCAACTGCCTTC	0.418000												
BTAF1	9044	broad.mit.edu	37	10	93786897	93786897	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:93786897T>G	uc001khr.2	+	37	5344	c.5246T>G	c.(5245-5247)GTT>GGT	p.V1749G		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1749	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AAACGTGTGGTTAACGTATAC	0.373000												
TACC2	10579	broad.mit.edu	37	10	124008265	124008265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:124008265G>A	uc001lfv.2	+	20	8860	c.8500G>A	c.(8500-8502)GAC>AAC	p.D2834N	TACC2_uc001lfw.2_Missense_Mutation_p.D980N|TACC2_uc009xzx.2_Missense_Mutation_p.D2712N|TACC2_uc010qtv.1_Missense_Mutation_p.D2761N|TACC2_uc001lfx.2_Missense_Mutation_p.D461N|TACC2_uc001lfy.2_Missense_Mutation_p.D457N|TACC2_uc001lfz.2_Missense_Mutation_p.D912N|TACC2_uc001lga.2_Missense_Mutation_p.D882N|TACC2_uc009xzy.2_Missense_Mutation_p.D894N|TACC2_uc001lgb.2_Missense_Mutation_p.D792N	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2834	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCTCTGGCCGACCTCTTCAG	0.572000												
FAM196A	642938	broad.mit.edu	37	10	128974010	128974010	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr10:128974010G>A	uc001lju.1	-	1	691	c.650C>T	c.(649-651)TCC>TTC	p.S217F	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.S217F|FAM196A_uc001ljv.1_Missense_Mutation_p.S217F|FAM196A_uc009yap.1_Missense_Mutation_p.S217F	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	217										ovary(2)	2						GGGCTCTTCGGATGGAGGCCG	0.627000												
OR52N4	390072	broad.mit.edu	37	11	5776694	5776694	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:5776694A>G	uc001mbu.2	+	1	772	c.724A>G	c.(724-726)ACC>GCC	p.T242A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCTTTAATACCTGCACTGC	0.498000												
OVCH2	341277	broad.mit.edu	37	11	7722004	7722004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:7722004C>T	uc010rbf.1	-	7	740	c.740G>A	c.(739-741)CGG>CAG	p.R247Q		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TTTCTTATTCCGGCACATGAG	0.512000												
OR4C15	81309	broad.mit.edu	37	11	55322842	55322842	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:55322842A>C	uc010rig.1	+	1	1060	c.1060A>C	c.(1060-1062)ATA>CTA	p.I354L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CATGAGGAGAATATGGAACAG	0.318000										HNSCC(20;0.049)		
OR8H1	219469	broad.mit.edu	37	11	56057755	56057755	+	Silent	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:56057755T>G	uc010rje.1	-	1	784	c.784A>C	c.(784-786)AGA>CGA	p.R262R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TAAGACTTTCTTGGTTTTAAA	0.358000												
FAT3	120114	broad.mit.edu	37	11	92616518	92616518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:92616518G>A	uc001pdj.3	+	23	12913	c.12896G>A	c.(12895-12897)TGC>TAC	p.C4299Y	FAT3_uc001pdi.3_Missense_Mutation_p.C739Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4299	Cytoplasmic (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)				CGCTCCGACTGCGACTCCATC	0.657000										TCGA Ovarian(4;0.039)		
DDI1	414301	broad.mit.edu	37	11	103907674	103907674	+	Missense_Mutation	SNP	G	G	T	rs147776291	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr11:103907674G>T	uc001phr.2	+	1	367	c.124G>T	c.(124-126)GTC>TTC	p.V42F	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	42	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAGAGTCCCCGTCGAAGAGAT	0.577000												
KCNA5	3741	broad.mit.edu	37	12	5154807	5154807	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:5154807G>A	uc001qni.2	+	1	1723	c.1494G>A	c.(1492-1494)TCG>TCA	p.S498S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	498	Helical; Name=Segment S6; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCGTGGGCTCGCTGTGTGCCA	0.612000												
GNB3	2784	broad.mit.edu	37	12	6954785	6954785	+	Silent	SNP	G	G	A	rs112732503		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:6954785G>A	uc001qrd.2	+	10	1140	c.735G>A	c.(733-735)TCG>TCA	p.S245S	GNB3_uc001qrc.2_Silent_p.S201S|GNB3_uc009zfe.2_Silent_p.S244S|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	245	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GCACGGGCTCGGATGACGCTT	0.632000												
CD163L1	283316	broad.mit.edu	37	12	7528460	7528460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:7528460G>A	uc001qsy.2	-	10	2548	c.2522C>T	c.(2521-2523)GCC>GTC	p.A841V	CD163L1_uc010sge.1_Missense_Mutation_p.A851V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	841	SRCR 8.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AAGAGATATGGCATCTCCACA	0.453000												
LST-3TM12	338821	broad.mit.edu	37	12	21200087	21200087	+	Silent	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:21200087T>G	uc010sin.1	+	7	930	c.930T>G	c.(928-930)ACT>ACG	p.T310T	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.T357T	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	310						membrane	transporter activity				0						CTTCTCTTACTTATATCATTA	0.338000												
SH2B3	10019	broad.mit.edu	37	12	111884628	111884628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr12:111884628G>A	uc001tse.2	+	3	1161	c.804G>A	c.(802-804)ATG>ATA	p.M268I	SH2B3_uc010syf.1_Missense_Mutation_p.M268I|SH2B3_uc001tsf.2_Missense_Mutation_p.M268I|SH2B3_uc010syg.1_Missense_Mutation_p.M66I	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	268	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						GGCTTGAGATGCCTGACAACC	0.522000												
SACS	26278	broad.mit.edu	37	13	23905608	23905608	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:23905608A>C	uc001uon.2	-	10	12996	c.12407T>G	c.(12406-12408)CTT>CGT	p.L4136R	SACS_uc001uoo.2_Missense_Mutation_p.L3989R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4136					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACTGTCAAGTTTCTCACC	0.383000												
DCLK1	9201	broad.mit.edu	37	13	36686252	36686252	+	Silent	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:36686252A>C	uc001uvf.2	-	3	710	c.477T>G	c.(475-477)GCT>GCG	p.A159A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	159					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCCCGAGAAGCCGAGGTGG	0.517000												
SPG20	23111	broad.mit.edu	37	13	36888456	36888456	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:36888456T>C	uc001uvn.2	-	7	1661	c.1391A>G	c.(1390-1392)GAA>GGA	p.E464G	SPG20_uc010ten.1_Missense_Mutation_p.E454G|SPG20_uc001uvm.2_Missense_Mutation_p.E464G|SPG20_uc001uvo.2_Missense_Mutation_p.E464G|SPG20_uc001uvq.2_Missense_Mutation_p.E464G	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	464					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CACGGGTTTTTCTTCTGGTTG	0.478000												
FOXO1	2308	broad.mit.edu	37	13	41134248	41134248	+	Silent	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr13:41134248T>C	uc001uxl.3	-	2	1765	c.1380A>G	c.(1378-1380)GGA>GGG	p.G460G	FOXO1_uc010acc.1_Silent_p.G275G	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	460					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CCTTCAAGAGTCCAGGCGCAC	0.517000												
COCH	1690	broad.mit.edu	37	14	31349900	31349900	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:31349900A>T	uc001wqr.2	+	8	669	c.589A>T	c.(589-591)ATT>TTT	p.I197F	COCH_uc001wqp.2_Missense_Mutation_p.I197F|COCH_uc001wqq.3_Missense_Mutation_p.I197F|uc001wqs.2_Intron|COCH_uc001wqt.1_Missense_Mutation_p.I4F	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	197	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AATGTTGGGAATTGGAACAGA	0.343000												
EXOC5	10640	broad.mit.edu	37	14	57675476	57675476	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:57675476G>C	uc001xct.2	-	18	2229	c.1978C>G	c.(1978-1980)CTT>GTT	p.L660V	EXOC5_uc001xcs.2_Missense_Mutation_p.L339V|EXOC5_uc010trg.1_Missense_Mutation_p.L605V|EXOC5_uc010trh.1_Missense_Mutation_p.L595V	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	660					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						AGATTGCAAAGAGCATGCAGA	0.348000												
ARID4A	5926	broad.mit.edu	37	14	58832906	58832906	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:58832906C>G	uc001xdp.2	+	22	3735	c.3481C>G	c.(3481-3483)CCG>GCG	p.P1161A	ARID4A_uc001xdo.2_Intron|ARID4A_uc001xdq.2_Intron	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	1161					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AGAAAAACATCCGAATTCATC	0.373000												
RTL1	388015	broad.mit.edu	37	14	101350961	101350961	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr14:101350961C>A	uc010txj.1	-	1	224	c.165G>T	c.(163-165)AAG>AAT	p.K55N	uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	55										pancreas(1)	1						GGGGCTCCTTCTTTTCCTGGG	0.622000												
OR4N4	283694	broad.mit.edu	37	15	22382668	22382668	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr15:22382668T>G	uc001yuc.1	+	7	1177	c.196T>G	c.(196-198)TTG>GTG	p.L66V	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L66V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGGGCAACTTGGCCTTCCT	0.468000												
ACAN	176	broad.mit.edu	37	15	89392845	89392845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr15:89392845G>A	uc010upo.1	+	10	2283	c.1909G>A	c.(1909-1911)GTC>ATC	p.V637I	ACAN_uc002bmx.2_Missense_Mutation_p.V637I|ACAN_uc010upp.1_Missense_Mutation_p.V637I|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	637					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTACCCCATCGTCACCCCAAG	0.692000												
SNX29	92017	broad.mit.edu	37	16	12662459	12662459	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:12662459C>T	uc002dby.3	+	14	1316	c.1260C>T	c.(1258-1260)AAC>AAT	p.N420N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	420					cell communication		phosphatidylinositol binding			ovary(1)	1						AGACCCGCAACGTGGAGCCCC	0.697000												
GPR139	124274	broad.mit.edu	37	16	20043132	20043132	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:20043132C>T	uc002dgu.1	-	2	1149	c.987G>A	c.(985-987)CCG>CCA	p.P329P	GPR139_uc010vaw.1_Silent_p.P236P	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						GTGAGTTTGCCGGCGAGATCC	0.473000												
ACSM2B	348158	broad.mit.edu	37	16	20559473	20559473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:20559473C>A	uc002dhj.3	-	9	1219	c.1009G>T	c.(1009-1011)GGA>TGA	p.G337*	ACSM2B_uc002dhk.3_Nonsense_Mutation_p.G337*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.G337*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	337					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GACTCCCCTCCAGCGAGGCAG	0.522000												
MMP2	4313	broad.mit.edu	37	16	55516874	55516874	+	Silent	SNP	G	G	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:55516874G>C	uc002ehz.3	+	2	518	c.207G>C	c.(205-207)GTG>GTC	p.V69V	MMP2_uc010vhd.1_5'UTR|MMP2_uc010ccc.2_Silent_p.V19V	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	69					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACCTGTTTGTGCTGAAGGACA	0.512000												
ADAT1	23536	broad.mit.edu	37	16	75636996	75636996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr16:75636996G>A	uc002feo.1	-	10	1465	c.1363C>T	c.(1363-1365)CCA>TCA	p.P455S	ADAT1_uc002fep.1_Missense_Mutation_p.P306S	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	455	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						AGGGAGTGTGGCCACTTGTCC	0.438000												
GLP2R	9340	broad.mit.edu	37	17	9745873	9745873	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:9745873C>T	uc002gmd.1	+	4	444	c.444C>T	c.(442-444)AAC>AAT	p.N148N	GLP2R_uc010cog.1_RNA	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	148	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CGATAGAGAACGCCACGGATA	0.527000												
MYH8	4626	broad.mit.edu	37	17	10303964	10303964	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:10303964T>A	uc002gmm.2	-	27	3573	c.3478A>T	c.(3478-3480)ACT>TCT	p.T1160S	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1160	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGAGCAGAAGTTGCCCCACCG	0.612000									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
ANKRD13B	124930	broad.mit.edu	37	17	27936244	27936244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:27936244G>A	uc002hei.2	+	6	819	c.706G>A	c.(706-708)GCG>ACG	p.A236T	ANKRD13B_uc002heh.2_Missense_Mutation_p.A104T|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	236											0						CCGGCTTACCGCGCCCGTCGT	0.632000												
ATAD5	79915	broad.mit.edu	37	17	29167747	29167747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:29167747G>A	uc002hfs.1	+	4	2535	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	ATAD5_uc002hft.1_Missense_Mutation_p.R627H	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	730					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCCTTAAGGCGCTCCTCTAGA	0.343000												
SRCIN1	80725	broad.mit.edu	37	17	36708206	36708206	+	Silent	SNP	G	G	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:36708206G>T	uc002hqd.2	-	14	2868	c.2643C>A	c.(2641-2643)GCC>GCA	p.A881A	SRCIN1_uc002hqf.1_Silent_p.A753A|SRCIN1_uc002hqe.2_Silent_p.A735A|SRCIN1_uc002hqg.2_Silent_p.A187A	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	753					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGGTAAGAGAGGCTCCTTCAG	0.617000												
FMNL1	752	broad.mit.edu	37	17	43322779	43322779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:43322779C>T	uc002iin.2	+	22	3088	c.2888C>T	c.(2887-2889)GCT>GTT	p.A963V	FMNL1_uc002iiq.2_Missense_Mutation_p.A541V|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	963	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						AGCAAGACGGCTCAGGTGCGC	0.632000												
CA10	56934	broad.mit.edu	37	17	50008436	50008436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:50008436G>A	uc002itw.3	-	3	1179	c.193C>T	c.(193-195)CGG>TGG	p.R65W	CA10_uc002itv.3_Missense_Mutation_p.R71W|CA10_uc002itx.3_Missense_Mutation_p.R65W|CA10_uc002ity.3_Missense_Mutation_p.R65W|CA10_uc002itz.2_Missense_Mutation_p.R65W	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGCGACTGCCGTTTCCCCACA	0.473000												
DDX42	11325	broad.mit.edu	37	17	61889335	61889335	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:61889335G>A	uc002jbu.2	+	15	1699	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	DDX42_uc002jbv.2_Missense_Mutation_p.G481E|DDX42_uc002jbw.1_Missense_Mutation_p.G217E|DDX42_uc002jbx.2_Missense_Mutation_p.G217E|DDX42_uc002jby.2_Missense_Mutation_p.G27E	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	481					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CTCCATTCTGGACCTAGTAAA	0.448000												
FASN	2194	broad.mit.edu	37	17	80037290	80037290	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr17:80037290G>A	uc002kdu.2	-	42	7458	c.7341C>T	c.(7339-7341)CGC>CGT	p.R2447R	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2447	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGTCTTGGCGCGCAGTAGCA	0.647000												
EPB41L3	23136	broad.mit.edu	37	18	5419834	5419834	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:5419834T>C	uc002kmt.1	-	12	1468	c.1382A>G	c.(1381-1383)CAG>CGG	p.Q461R	EPB41L3_uc010wzh.1_Missense_Mutation_p.Q479R|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q479R|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q370R|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q40R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	461	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CAAGTTGGTCTGAGAGATGCC	0.318000												
PSMA8	143471	broad.mit.edu	37	18	23759077	23759077	+	Silent	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:23759077A>C	uc002kvq.2	+	6	775	c.661A>C	c.(661-663)AGA>CGA	p.R221R	PSMA8_uc002kvo.2_Silent_p.R177R|PSMA8_uc002kvp.2_Silent_p.R215R|PSMA8_uc002kvr.2_Silent_p.R189R	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TATAATAAGAAGAAATCAACC	0.303000												
SETBP1	26040	broad.mit.edu	37	18	42530045	42530045	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr18:42530045G>C	uc010dni.2	+	4	1036	c.740G>C	c.(739-741)AGC>ACC	p.S247T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	247						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAACTGCAAGCACCAGCAAG	0.547000									Schinzel-Giedion_syndrome			
MUC16	94025	broad.mit.edu	37	19	9084024	9084024	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:9084024C>A	uc002mkp.2	-	1	7995	c.7791G>T	c.(7789-7791)TTG>TTT	p.L2597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2597	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGTGACTACCAAAAGGCTCT	0.453000												
SAMD1	90378	broad.mit.edu	37	19	14200075	14200075	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:14200075C>T	uc010xnl.1	-	4	1054	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	352						cytoplasm|extracellular region					0		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		CGGTCACTCTCGGGCACTTCA	0.478000												
UPK1A	11045	broad.mit.edu	37	19	36166802	36166802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:36166802G>A	uc002oaw.2	+	5	529	c.529G>A	c.(529-531)GCG>ACG	p.A177T	UPK1A_uc010eeh.2_Missense_Mutation_p.A177T|uc002oax.1_5'Flank	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	177	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCTTCCGGGCGGCCACTCC	0.617000												
ZNF260	339324	broad.mit.edu	37	19	37006121	37006121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:37006121C>T	uc002oee.1	-	4	864	c.20G>A	c.(19-21)AGT>AAT	p.S7N	ZNF260_uc002oed.1_Missense_Mutation_p.S4N|ZNF260_uc010eey.1_Missense_Mutation_p.S4N|ZNF260_uc002oef.1_Missense_Mutation_p.S4N	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	7					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					ATGCTGAAGACTTTCCAACAT	0.343000												
ZNF461	92283	broad.mit.edu	37	19	37130918	37130918	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:37130918T>C	uc002oem.2	-	6	557	c.329A>G	c.(328-330)AAG>AGG	p.K110R	ZNF461_uc002oen.2_Missense_Mutation_p.K79R|ZNF461_uc010xtj.1_Missense_Mutation_p.K87R	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGAGATAACTTCTGGGGCTC	0.348000												
GGN	199720	broad.mit.edu	37	19	38877004	38877004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:38877004G>A	uc002oij.1	-	3	1033	c.898C>T	c.(898-900)CGC>TGC	p.R300C	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R217C	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	300	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCAAGGGGCGAGCGGCTCCA	0.692000												
FCGBP	8857	broad.mit.edu	37	19	40392045	40392045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:40392045C>T	uc002omp.3	-	17	8349	c.8341G>A	c.(8341-8343)GTG>ATG	p.V2781M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2781	Cys-rich.|TIL 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCACGCAGGCTTGG	0.607000												
GYS1	2997	broad.mit.edu	37	19	49489176	49489176	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:49489176G>A	uc002plp.2	-	4	850	c.609C>T	c.(607-609)ACC>ACT	p.T203T	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.T139T|GYS1_uc010xzz.1_Silent_p.T123T|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	203					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGGCATGGGTGGTGAAGATGG	0.612000												
LILRA1	11024	broad.mit.edu	37	19	55107775	55107775	+	Silent	SNP	G	G	A	rs59777368	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:55107775G>A	uc002qgh.1	+	7	1262	c.1080G>A	c.(1078-1080)GCG>GCA	p.A360A	LILRA2_uc010yfg.1_Silent_p.A358A|LILRA1_uc010yfh.1_Silent_p.A360A	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	360	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGACCAAGGCGGGAGCAGCTG	0.587000												
ZSCAN18	65982	broad.mit.edu	37	19	58601615	58601615	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr19:58601615G>A	uc002qri.2	-	2	329	c.20C>T	c.(19-21)GCG>GTG	p.A7V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A7V|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A7V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A63V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.A7V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.A7V	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGGCAAACGCCTTCTCCAA	0.617000												
SNTG2	54221	broad.mit.edu	37	2	1271173	1271173	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:1271173T>A	uc002qwq.2	+	14	1242	c.1114T>A	c.(1114-1116)TTG>ATG	p.L372M	SNTG2_uc010ewi.2_Missense_Mutation_p.L245M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	372	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAAGCAAACTTGTATCTGGG	0.522000												
PAPOLG	64895	broad.mit.edu	37	2	61021178	61021178	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:61021178T>C	uc002sai.2	+	19	2072	c.1841T>C	c.(1840-1842)GTC>GCC	p.V614A	PAPOLG_uc002saj.2_Missense_Mutation_p.V303A|PAPOLG_uc002sak.2_Missense_Mutation_p.V149A|PAPOLG_uc010fch.2_Missense_Mutation_p.V303A	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	614					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GGACGAAATGTCATTCCTAGA	0.408000												
PROKR1	10887	broad.mit.edu	37	2	68882442	68882442	+	Missense_Mutation	SNP	G	G	A	rs143892402	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:68882442G>A	uc010yqj.1	+	2	916	c.916G>A	c.(916-918)GTG>ATG	p.V306M	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	306	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTTCACCATCGTGCGCGACTT	0.587000												
REG3G	130120	broad.mit.edu	37	2	79255020	79255020	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:79255020T>G	uc002snw.2	+	5	506	c.421T>G	c.(421-423)TTA>GTA	p.L141V	REG3G_uc002snx.2_Missense_Mutation_p.L141V|REG3G_uc010ffu.2_Missense_Mutation_p.L95V	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	141	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						CTCCACCATCTTAAACCCTGG	0.498000												
EIF2AK3	9451	broad.mit.edu	37	2	88889965	88889965	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:88889965G>A	uc002stc.3	-	6	1363	c.1161C>T	c.(1159-1161)TAC>TAT	p.Y387Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	387	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACTCACCCAAGTAAACACTGT	0.358000												
TEKT4	150483	broad.mit.edu	37	2	95540714	95540714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:95540714C>T	uc002stw.1	+	4	1000	c.907C>T	c.(907-909)CGG>TGG	p.R303W	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	303					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GGAGGACGCGCGGTACAAGCT	0.667000												
RNF149	284996	broad.mit.edu	37	2	101893708	101893708	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:101893708T>A	uc002taz.1	-	7	1297	c.1195A>T	c.(1195-1197)ATC>TTC	p.I399F	RNF149_uc002tax.1_Intron	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	399						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGCTAGGAGATGGGTCCTCCA	0.448000												
ERCC3	2071	broad.mit.edu	37	2	128051203	128051203	+	Silent	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:128051203C>A	uc002toh.1	-	2	215	c.120G>T	c.(118-120)TCG>TCT	p.S40S	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_5'UTR|ERCC3_uc002tog.1_5'UTR|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Silent_p.S40S	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	40					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCCCGCCGCCGAGGGAACCG	0.567000			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
NCKAP5	344148	broad.mit.edu	37	2	133539979	133539979	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:133539979A>G	uc002ttp.2	-	14	4779	c.4405T>C	c.(4405-4407)TCA>CCA	p.S1469P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1469							protein binding				0						ATTGTGGGTGAGAGGGGGGCT	0.493000												
CCNT2	905	broad.mit.edu	37	2	135711860	135711860	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:135711860C>G	uc002tuc.1	+	9	1867	c.1835C>G	c.(1834-1836)TCT>TGT	p.S612C	CCNT2_uc002tub.1_Missense_Mutation_p.S612C|CCNT2_uc010zbf.1_Missense_Mutation_p.S437C|CCNT2_uc002tud.1_Missense_Mutation_p.S275C	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	612	Poly-Ser.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGCATTTCCTCTAGCTCCAGC	0.502000												
THSD7B	80731	broad.mit.edu	37	2	138373777	138373777	+	Silent	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:138373777T>G	uc002tva.1	+	17	3369	c.3369T>G	c.(3367-3369)ACT>ACG	p.T1123T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAGAAGAACTCGCCACCTGC	0.423000												
SCN3A	6328	broad.mit.edu	37	2	165984255	165984255	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:165984255G>A	uc002ucx.2	-	18	3771	c.3279C>T	c.(3277-3279)TTC>TTT	p.F1093F	SCN3A_uc002ucy.2_Silent_p.F1044F|SCN3A_uc002ucz.2_Silent_p.F1044F|SCN3A_uc002uda.1_Silent_p.F913F|SCN3A_uc002udb.1_Silent_p.F913F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1093						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GGTTGTTTATGAATGACATAT	0.403000												
GAD1	2571	broad.mit.edu	37	2	171687621	171687621	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:171687621T>G	uc002ugi.2	+	5	888	c.466T>G	c.(466-468)TTG>GTG	p.L156V	GAD1_uc002ugh.2_Missense_Mutation_p.L156V	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	156					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGCTTCAACTTGGAGCTCTC	0.542000												
GPR155	151556	broad.mit.edu	37	2	175335232	175335232	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:175335232G>A	uc002uit.2	-	5	1303	c.912C>T	c.(910-912)GGC>GGT	p.G304G	GPR155_uc002uiu.2_Silent_p.G304G|GPR155_uc002uiv.2_Silent_p.G304G|GPR155_uc010fqs.2_Silent_p.G304G	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	304					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						CCACACTGTCGCCCTTGTCCA	0.408000												
PRKRA	8575	broad.mit.edu	37	2	179301024	179301024	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:179301024A>T	uc002umf.2	-	7	833	c.632T>A	c.(631-633)TTA>TAA	p.L211*	PRKRA_uc002umc.2_Nonsense_Mutation_p.L43*|PRKRA_uc002umd.2_Nonsense_Mutation_p.L186*|PRKRA_uc002ume.2_Nonsense_Mutation_p.L200*|PRKRA_uc002umg.2_Nonsense_Mutation_p.L98*|PRKRA_uc002umh.1_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	211	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AGTACATCCTAAAGAATGTCC	0.388000												
ORMDL1	94101	broad.mit.edu	37	2	190636564	190636564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:190636564G>A	uc002urb.3	-	3	1178	c.391C>T	c.(391-393)CTC>TTC	p.L131F	ORMDL1_uc002urc.3_Missense_Mutation_p.L131F|ORMDL1_uc002urd.3_Missense_Mutation_p.L131F|ORMDL1_uc002ure.3_Missense_Mutation_p.L131F	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	131					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			ACACTCAGGAGAGAAGCTGTG	0.318000												
NDUFS1	4719	broad.mit.edu	37	2	207014614	207014614	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:207014614G>T	uc002vbe.2	-	4	316	c.189C>A	c.(187-189)TTC>TTA	p.F63L	NDUFS1_uc010ziq.1_Missense_Mutation_p.F77L|NDUFS1_uc010zir.1_Intron|NDUFS1_uc010zis.1_Missense_Mutation_p.F6L|NDUFS1_uc010zit.1_Intron|NDUFS1_uc010ziu.1_Intron	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	63	2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CATGATAACAGAATCGAGGGA	0.368000												
PTH2R	5746	broad.mit.edu	37	2	209324631	209324631	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:209324631T>G	uc002vdb.2	+	9	1139	c.926T>G	c.(925-927)CTT>CGT	p.L309R	PTH2R_uc010zjb.1_Missense_Mutation_p.L320R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	309	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCTGGGAACTTAGTGCTGGA	0.338000												
CPS1	1373	broad.mit.edu	37	2	211512654	211512654	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:211512654A>G	uc002vee.3	+	26	3341	c.3209A>G	c.(3208-3210)AAG>AGG	p.K1070R	CPS1_uc010fur.2_Missense_Mutation_p.K1076R|CPS1_uc010fus.2_Missense_Mutation_p.K619R	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1070					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTCTATACAAGAATGGTGTC	0.507000												
SPEG	10290	broad.mit.edu	37	2	220315878	220315878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:220315878G>A	uc010fwg.2	+	5	2134	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Translation_Start_Site|SPEG_uc002vln.1_Translation_Start_Site|SPEG_uc002vlp.1_Translation_Start_Site	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	712					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.V712_P722del(1)		stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGACTCCTACGTGTCCGCTGG	0.592000												
SPHKAP	80309	broad.mit.edu	37	2	228882722	228882722	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr2:228882722C>G	uc002vpq.2	-	7	2895	c.2848G>C	c.(2848-2850)GAC>CAC	p.D950H	SPHKAP_uc002vpp.2_Missense_Mutation_p.D950H|SPHKAP_uc010zlx.1_Missense_Mutation_p.D950H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	950						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGAGTTGTCAAGGCAAATC	0.468000												
KIF16B	55614	broad.mit.edu	37	20	16486762	16486762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:16486762C>T	uc002wpg.1	-	8	931	c.773G>A	c.(772-774)CGT>CAT	p.R258H	KIF16B_uc010gch.1_Missense_Mutation_p.R258H|KIF16B_uc010gci.1_Missense_Mutation_p.R258H|KIF16B_uc010gcj.1_Missense_Mutation_p.R258H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	258	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GGCATCTGCACGCTCACTTCC	0.458000												
MYH7B	57644	broad.mit.edu	37	20	33583278	33583278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:33583278G>A	uc002xbi.1	+	26	3058	c.2966G>A	c.(2965-2967)CGG>CAG	p.R989Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	947	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCGCCCGCCGGCGCAAGCTG	0.592000												
C20orf152	140894	broad.mit.edu	37	20	34560665	34560665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:34560665C>T	uc002xes.1	+	2	322	c.166C>T	c.(166-168)CAC>TAC	p.H56Y	C20orf152_uc002xer.1_Missense_Mutation_p.H56Y|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	56											0	Breast(12;0.00631)					TCACTGGAAGCACCCTATCTT	0.363000												
NEURL2	140825	broad.mit.edu	37	20	44519034	44519034	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:44519034A>T	uc002xqg.1	-	1	868	c.597T>A	c.(595-597)GAT>GAA	p.D199E	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	199	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				CGGCCGTGCCATCGGGGCGCG	0.672000											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRIC285	85441	broad.mit.edu	37	20	62191324	62191324	+	Silent	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr20:62191324C>A	uc002yfm.2	-	19	8674	c.7782G>T	c.(7780-7782)GTG>GTT	p.V2594V	PRIC285_uc002yfl.1_Silent_p.V2025V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2594					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGCCACATTCACTTGGTTGG	0.657000												
GRIK1	2897	broad.mit.edu	37	21	31045320	31045320	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:31045320C>T	uc002yno.1	-	4	1173	c.709G>A	c.(709-711)GCT>ACT	p.A237T	GRIK1_uc002ynn.2_Missense_Mutation_p.A237T|GRIK1_uc011acs.1_Missense_Mutation_p.A237T|GRIK1_uc011act.1_Missense_Mutation_p.A181T|GRIK1_uc010glq.1_Missense_Mutation_p.A95T|GRIK1_uc002ynr.2_Missense_Mutation_p.A237T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	237	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGATTTCAGCGGCTGTTTCA	0.413000												
KCNE2	9992	broad.mit.edu	37	21	35742989	35742989	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:35742989C>G	uc002ytt.1	+	2	352	c.212C>G	c.(211-213)ACT>AGT	p.T71S		NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related	71	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CTGGTGAGCACTGTGAAATCC	0.453000												
COL6A1	1291	broad.mit.edu	37	21	47422312	47422312	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr21:47422312C>T	uc002zhu.1	+	32	2349	c.2247C>T	c.(2245-2247)ATC>ATT	p.I749I	COL6A1_uc010gqd.1_Silent_p.I80I|COL6A1_uc002zhv.1_Silent_p.I80I|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	749	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCCCGGCATCCAGGTGGGGT	0.701000												
RTN4R	65078	broad.mit.edu	37	22	20229416	20229416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:20229416G>A	uc002zrv.2	-	2	1441	c.1240C>T	c.(1240-1242)CGC>TGC	p.R414C	RTN4R_uc002zru.2_Missense_Mutation_p.R186C	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	414					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GGCCTCCGGCGAGGGCCCGAG	0.706000												
CSF2RB	1439	broad.mit.edu	37	22	37319374	37319374	+	Silent	SNP	G	G	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:37319374G>T	uc003aqa.3	+	3	382	c.165G>T	c.(163-165)CGG>CGT	p.R55R	CSF2RB_uc003aqc.3_Silent_p.R55R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	55	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ATGCCCAGCGGCTCGTCAACG	0.647000												
PICK1	9463	broad.mit.edu	37	22	38469813	38469813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:38469813G>A	uc003auq.2	+	11	1207	c.817G>A	c.(817-819)GAG>AAG	p.E273K	PICK1_uc003aur.2_Missense_Mutation_p.E273K|PICK1_uc003aus.2_Missense_Mutation_p.E273K|PICK1_uc003aut.2_Missense_Mutation_p.E273K	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	273	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					GATGGATGACGAGGAATACAG	0.622000												
MKL1	57591	broad.mit.edu	37	22	40820311	40820311	+	Missense_Mutation	SNP	C	C	T	rs138116355		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr22:40820311C>T	uc003ayv.1	-	5	583	c.376G>A	c.(376-378)GAG>AAG	p.E126K	MKL1_uc003ayw.1_Missense_Mutation_p.E126K|MKL1_uc010gye.1_Missense_Mutation_p.E126K|MKL1_uc010gyf.1_Missense_Mutation_p.E126K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	126	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCAGGCTGCTCGGGGGATAAG	0.597000			T	RBM15	acute megakaryocytic leukemia							
CHL1	10752	broad.mit.edu	37	3	403458	403458	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:403458C>T	uc003bou.2	+	12	1606	c.1335C>T	c.(1333-1335)TGC>TGT	p.C445C	CHL1_uc003bot.2_Silent_p.C461C|CHL1_uc003bow.1_Silent_p.C445C|CHL1_uc011asi.1_Silent_p.C461C	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	445	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTACATTGCGAGTTCTTTG	0.408000												
SLC6A6	6533	broad.mit.edu	37	3	14520637	14520637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:14520637C>T	uc010heg.2	+	20	1786	c.1495C>T	c.(1495-1497)CGG>TGG	p.R499W	SLC6A6_uc003byq.2_Missense_Mutation_p.R499W|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	499					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GATTGGCTATCGGCCCGGGCC	0.532000												
OXNAD1	92106	broad.mit.edu	37	3	16344234	16344234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:16344234G>A	uc003caw.2	+	8	1220	c.763G>A	c.(763-765)GAA>AAA	p.E255K	OXNAD1_uc003cax.2_Missense_Mutation_p.E255K|OXNAD1_uc011awb.1_Missense_Mutation_p.E273K	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	255							oxidoreductase activity			skin(1)	1						AATCAATGCGGAACTCAAGCC	0.383000												
C3orf23	285343	broad.mit.edu	37	3	44434444	44434444	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:44434444C>A	uc010him.2	+	6	915	c.670C>A	c.(670-672)CAT>AAT	p.H224N	C3orf23_uc003cnd.3_Missense_Mutation_p.H224N|C3orf23_uc003cne.3_Missense_Mutation_p.H80N	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	224						mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAACTGTCTCATCAATTGCA	0.333000												
KLHDC8B	200942	broad.mit.edu	37	3	49212502	49212502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:49212502G>A	uc003cwh.2	+	5	959	c.774G>A	c.(772-774)TGG>TGA	p.W258*	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	258	Kelch 6.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCCTGGACCAAATTGC	0.597000												
PDHB	5162	broad.mit.edu	37	3	58419403	58419403	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:58419403C>T	uc003dkf.3	-	2	80	c.51G>A	c.(49-51)GGG>GGA	p.G17G	PDHB_uc003dke.3_5'UTR|PDHB_uc003dkg.3_Intron|PDHB_uc010hnl.2_Intron|PDHB_uc011bff.1_Silent_p.G17G	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	17					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCTTCAGCAGCCCGGAGACCT	0.706000												
HTR1F	3355	broad.mit.edu	37	3	88040723	88040723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:88040723A>G	uc003dqr.2	+	2	982	c.824A>G	c.(823-825)GAG>GGG	p.E275G		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	275	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTCAAGCATGAGAAATCTTGG	0.408000												
ARHGAP31	57514	broad.mit.edu	37	3	119132796	119132796	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:119132796C>A	uc003ecj.3	+	12	2552	c.2020C>A	c.(2020-2022)CCT>ACT	p.P674T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	674	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ATCGTTGCCACCTCCTGCTCT	0.522000												
TRH	7200	broad.mit.edu	37	3	129694763	129694763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:129694763C>T	uc003enc.2	+	2	665	c.104C>T	c.(103-105)ACG>ATG	p.T35M		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	35					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GAGGCAGTGACGGCCGCGGAG	0.692000												
CPNE4	131034	broad.mit.edu	37	3	131442333	131442333	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:131442333T>G	uc003eok.2	-	3	752	c.317A>C	c.(316-318)AAG>ACG	p.K106T	CPNE4_uc011blq.1_Missense_Mutation_p.K124T|CPNE4_uc003eol.2_Missense_Mutation_p.K124T|CPNE4_uc003eom.2_Missense_Mutation_p.K106T	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	106	C2 1.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GTCGGCCTCCTTCAGCCCATT	0.542000												
KCNMB2	10242	broad.mit.edu	37	3	178560470	178560470	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:178560470T>G	uc003fjd.2	+	5	796	c.453T>G	c.(451-453)AAT>AAG	p.N151K	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GTGGAAAAAATTTTGAAGAAT	0.403000												
KLHL24	54800	broad.mit.edu	37	3	183396874	183396874	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr3:183396874G>A	uc003flv.2	+	8	1898	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	KLHL24_uc003flw.2_Missense_Mutation_p.E535K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	535	Kelch 5.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGTTAAACAGGAAAACTGTGG	0.338000												
GAK	2580	broad.mit.edu	37	4	843686	843686	+	Silent	SNP	G	G	C	rs56278731	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:843686G>C	uc003gbm.3	-	27	4027	c.3828C>G	c.(3826-3828)CCC>CCG	p.P1276P	GAK_uc003gbn.3_Silent_p.P1197P|GAK_uc003gbk.3_Silent_p.P73P|GAK_uc010ibi.2_Silent_p.P501P|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.P1129P	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1276	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TCACCTTGTCGGGGTGCACAG	0.532000												
EVC2	132884	broad.mit.edu	37	4	5617166	5617166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:5617166C>T	uc003gij.2	-	16	2866	c.2812G>A	c.(2812-2814)GAA>AAA	p.E938K	EVC2_uc011bwb.1_Missense_Mutation_p.E378K|EVC2_uc003gik.2_Missense_Mutation_p.E858K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	938						integral to membrane				large_intestine(3)|ovary(2)	5						ACCAGGTCTTCAGAGGCCTGT	0.507000												
GRXCR1	389207	broad.mit.edu	37	4	42895288	42895288	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:42895288T>G	uc003gwt.2	+	1	5	c.5T>G	c.(4-6)CTT>CGT	p.L2R		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	2					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.L2H(1)		ovary(1)	1						GTGACCATGCTTAAAAGGGAG	0.488000												
CORIN	10699	broad.mit.edu	37	4	47682178	47682178	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:47682178T>G	uc003gxm.2	-	8	1205	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T	CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	371	Extracellular (Potential).|LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CTCGTCAGACTTATCCACACA	0.507000												
RG9MTD2	93587	broad.mit.edu	37	4	100470429	100470429	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:100470429A>C	uc003huy.2	-	8	1149	c.836T>G	c.(835-837)GTT>GGT	p.V279G	RG9MTD2_uc003huz.3_Missense_Mutation_p.V279G|RG9MTD2_uc003hva.3_Missense_Mutation_p.V279G	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	279							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTCTGTGGGAACAGCTCCTTT	0.438000												
FAT4	79633	broad.mit.edu	37	4	126411219	126411219	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:126411219G>A	uc003ifj.3	+	17	13242	c.13242G>A	c.(13240-13242)CTG>CTA	p.L4414L	FAT4_uc011cgp.1_Silent_p.L2655L|FAT4_uc003ifi.1_Silent_p.L1891L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4414	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGATTTGCTGTGCATTAATC	0.577000												
KIAA0922	23240	broad.mit.edu	37	4	154525488	154525488	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:154525488G>A	uc003inm.3	+	25	3373	c.3321G>A	c.(3319-3321)CTG>CTA	p.L1107L	KIAA0922_uc010ipp.2_Silent_p.L1108L|KIAA0922_uc010ipq.2_Silent_p.L876L	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1107	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TCTGTCCACTGAAGACCTCCA	0.428000												
TRIML1	339976	broad.mit.edu	37	4	189068336	189068336	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr4:189068336A>C	uc003izm.1	+	6	1332	c.1217A>C	c.(1216-1218)AAG>ACG	p.K406T	TRIML1_uc003izn.1_Missense_Mutation_p.K130T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	406	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)		CCTGTGTGTAAGGTTGGTGTC	0.483000												
ADAMTS16	170690	broad.mit.edu	37	5	5303848	5303848	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:5303848A>C	uc003jdl.2	+	20	3293	c.3155A>C	c.(3154-3156)AAG>ACG	p.K1052T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.K1052T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1052	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AAGCCCAAGAAGCTGCAGTGG	0.612000												
ADAMTS16	170690	broad.mit.edu	37	5	5319202	5319202	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:5319202A>G	uc003jdl.2	+	23	3764	c.3626A>G	c.(3625-3627)AAG>AGG	p.K1209R		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1209	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K1209M(1)		ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGCAGCCACAAGTTCTACGGC	0.522000												
SPEF2	79925	broad.mit.edu	37	5	35705878	35705878	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:35705878T>C	uc003jjo.2	+	18	2744	c.2633T>C	c.(2632-2634)CTT>CCT	p.L878P	SPEF2_uc003jjq.3_Missense_Mutation_p.L873P|SPEF2_uc003jjp.1_Missense_Mutation_p.L364P	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	878	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGAAATTCTTACGACTGAA	0.274000												
LIFR	3977	broad.mit.edu	37	5	38527279	38527279	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:38527279G>C	uc010ive.1	-	4	707	c.375C>G	c.(373-375)TTC>TTG	p.F125L	LIFR_uc003jli.2_Missense_Mutation_p.F125L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	125	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					CATTTAGTGTGAATTTACTTG	0.289000			T	PLAG1	salivary adenoma							
HCN1	348980	broad.mit.edu	37	5	45262335	45262335	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:45262335G>A	uc003jok.2	-	8	2386	c.2361C>T	c.(2359-2361)TCC>TCT	p.S787S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	787	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTGCGAGGCGGAGAGTGGCC	0.622000												
PIK3R1	5295	broad.mit.edu	37	5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:67591121C>T	uc003jva.2	+	13	2274	c.1714C>T	c.(1714-1716)CAG>TAG	p.Q572*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	572					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373000			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)		
GPR98	84059	broad.mit.edu	37	5	90119348	90119348	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:90119348G>C	uc003kju.2	+	76	16399	c.16303G>C	c.(16303-16305)GGG>CGG	p.G5435R	GPR98_uc003kjt.2_Missense_Mutation_p.G3141R|GPR98_uc003kjw.2_Missense_Mutation_p.G1096R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5435	Calx-beta 35.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGTGTCAGGGACCACAAC	0.438000												
APC	324	broad.mit.edu	37	5	112177050	112177050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:112177050G>A	uc010jby.2	+	16	6139	c.5759G>A	c.(5758-5760)CGA>CAA	p.R1920Q	APC_uc011cvt.1_Missense_Mutation_p.R1902Q|APC_uc003kpz.3_Missense_Mutation_p.R1920Q|APC_uc003kpy.3_Missense_Mutation_p.R1920Q|APC_uc010jbz.2_Missense_Mutation_p.R1637Q|APC_uc010jca.2_Missense_Mutation_p.R1220Q	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1920	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAATAAATCGAGGTCAGCCT	0.423000		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
KCNN2	3781	broad.mit.edu	37	5	113740479	113740479	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:113740479C>T	uc003kqo.2	+	3	1384	c.927C>T	c.(925-927)TGC>TGT	p.C309C		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	309	Helical; Name=Segment S5; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TGACTATATGCCCAGGAACTG	0.373000												
PCDHA3	56145	broad.mit.edu	37	5	140182956	140182956	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140182956C>T	uc003lhf.2	+	1	2174	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A725V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCCGCGCCGCCAACC	0.637000												
PCDHAC1	56135	broad.mit.edu	37	5	140307553	140307553	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140307553T>A	uc003lih.2	+	1	1252	c.1076T>A	c.(1075-1077)ATT>AAT	p.I359N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.I359N	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	359	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACAGTGATTGCTCTCTTT	0.527000												
PCDHB5	26167	broad.mit.edu	37	5	140516111	140516111	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140516111C>T	uc003liq.2	+	1	1312	c.1095C>T	c.(1093-1095)GCC>GCT	p.A365A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	365	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTAGTTGCCGTTTTCAGTG	0.488000												
PCDHB9	56127	broad.mit.edu	37	5	140568302	140568302	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140568302G>A	uc003liw.1	+	3	1411	c.1411G>A	c.(1411-1413)GGC>AGC	p.G471S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	471	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACATCGGCAGTGTCAG	0.652000												
PCDHGA1	56114	broad.mit.edu	37	5	140712418	140712418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140712418C>T	uc003lji.1	+	1	2167	c.2167C>T	c.(2167-2169)CGT>TGT	p.R723C	PCDHGA1_uc011dan.1_Missense_Mutation_p.R723C	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	723	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAAGTCACGTCTGCTACA	0.657000												
PCDHGC4	56098	broad.mit.edu	37	5	140865132	140865132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:140865132C>T	uc003lky.1	+	1	392	c.392C>T	c.(391-393)CCC>CTC	p.P131L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.P131L	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	131	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACGCCCCCCGTTTTCCG	0.572000												
LARP1	23367	broad.mit.edu	37	5	154183812	154183812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:154183812C>T	uc003lvp.2	+	14	2920	c.2491C>T	c.(2491-2493)CAT>TAT	p.H831Y	LARP1_uc003lvo.2_Missense_Mutation_p.H754Y	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	831							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTGGAGAGCCATGTGGGCTG	0.532000												
GABRA1	2554	broad.mit.edu	37	5	161300185	161300185	+	Silent	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:161300185A>C	uc010jiw.2	+	6	786	c.318A>C	c.(316-318)GGA>GGC	p.G106G	GABRA1_uc010jix.2_Silent_p.G106G|GABRA1_uc010jiy.2_Silent_p.G106G|GABRA1_uc003lyx.3_Silent_p.G106G|GABRA1_uc010jiz.2_Silent_p.G106G|GABRA1_uc010jja.2_Silent_p.G106G|GABRA1_uc010jjb.2_Silent_p.G106G	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	106	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AATTTAAAGGACCTATGACAG	0.388000												
GFPT2	9945	broad.mit.edu	37	5	179729482	179729482	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr5:179729482G>A	uc003mlw.1	-	18	2043	c.1945C>T	c.(1945-1947)CTG>TTG	p.L649L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	649	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATCACGCTCAGGATGCCCTGG	0.527000												
DSP	1832	broad.mit.edu	37	6	7583269	7583269	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:7583269A>G	uc003mxp.1	+	24	6053	c.5774A>G	c.(5773-5775)CAG>CGG	p.Q1925R	DSP_uc003mxq.1_Missense_Mutation_p.Q1326R	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1925	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGGAGACACAGTCACAGTTA	0.493000												
HIST1H2BG	8339	broad.mit.edu	37	6	26216771	26216771	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:26216771C>G	uc003ngz.2	-	1	102	c.101G>C	c.(100-102)CGT>CCT	p.R34P	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				GCTCTCCTTACGACTGCGCTT	0.522000												
SCAND3	114821	broad.mit.edu	37	6	28554203	28554204	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:28554203_28554204CC>TA	uc003nlo.2	-	1	909_910	c.291_292GG>TA	c.(289-294)CTGGAG>CTTAAG	p.E98K	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	98	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGGAACTGCTCCAGCACCAACA	0.554000												
EHMT2	10919	broad.mit.edu	37	6	31852223	31852223	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:31852223T>A	uc003nxz.1	-	21	2727	c.2717A>T	c.(2716-2718)AAG>ATG	p.K906M	EHMT2_uc003nxv.1_Translation_Start_Site|EHMT2_uc003nxw.1_Translation_Start_Site|EHMT2_uc003nxx.1_Missense_Mutation_p.K104M|EHMT2_uc003nxy.1_Missense_Mutation_p.K704M|EHMT2_uc011don.1_Missense_Mutation_p.K929M|EHMT2_uc003nya.1_Missense_Mutation_p.K872M	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	906					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						AAGTCGGAGCTTGCGGTTGAG	0.637000												
TFAP2B	7021	broad.mit.edu	37	6	50803904	50803904	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:50803904G>A	uc003pag.2	+	4	898	c.732G>A	c.(730-732)TCG>TCA	p.S244S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	244					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GTTCAACTTCGAAGTACAAAG	0.537000												
BAI3	577	broad.mit.edu	37	6	70071176	70071176	+	Silent	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:70071176T>C	uc003pev.3	+	29	4459	c.4011T>C	c.(4009-4011)CAT>CAC	p.H1337H	BAI3_uc010kak.2_Silent_p.H1337H|BAI3_uc011dxx.1_Silent_p.H543H	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1337	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCTTGCCGCATGAAAGGCTAT	0.408000												
SERAC1	84947	broad.mit.edu	37	6	158540190	158540190	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr6:158540190T>G	uc003qrc.2	-	12	1321	c.1179A>C	c.(1177-1179)AAA>AAC	p.K393N	SERAC1_uc003qrb.2_Missense_Mutation_p.K121N	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	393					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GGACATCTGCTTTAATGGGCT	0.428000												
WIPI2	26100	broad.mit.edu	37	7	5256764	5256764	+	Silent	SNP	G	G	A	rs149226373	byFrequency	TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:5256764G>A	uc003snv.2	+	6	738	c.522G>A	c.(520-522)GCG>GCA	p.A174A	WIPI2_uc003snw.2_Silent_p.A174A|WIPI2_uc003snx.2_Silent_p.A156A|WIPI2_uc003sny.2_Silent_p.A156A|WIPI2_uc010ksv.2_Silent_p.A30A|WIPI2_uc003snz.2_Silent_p.A115A|WIPI2_uc003soa.2_Silent_p.A115A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	174					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCTACTTGGCGTACCCAGGGA	0.512000												
TMEM196	256130	broad.mit.edu	37	7	19765389	19765389	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:19765389C>A	uc011jyg.1	-	3	292	c.207G>T	c.(205-207)ATG>ATT	p.M69I	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	75	Helical; (Potential).					integral to membrane					0						AAAAGAGGATCATCTGATAAG	0.473000												
ADCY1	107	broad.mit.edu	37	7	45753346	45753346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:45753346C>T	uc003tne.3	+	20	3130	c.3112C>T	c.(3112-3114)CGA>TGA	p.R1038*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1038	Cytoplasmic (Potential).|Interaction with calmodulin (By similarity).				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|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTTGTGTGCCGAGGCAAAGT	0.537000												
IGFBP3	3486	broad.mit.edu	37	7	45954522	45954522	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:45954522T>G	uc003tns.2	-	4	905	c.773A>C	c.(772-774)AAG>ACG	p.K258T	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.K264T|IGFBP3_uc003tnt.2_Missense_Mutation_p.K161T	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	258	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	GAAGCCCCGCTTCCTGCCTTT	0.587000												
ABCA13	154664	broad.mit.edu	37	7	48550761	48550761	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:48550761T>G	uc003toq.2	+	51	13631	c.13606T>G	c.(13606-13608)TTG>GTG	p.L4536V	ABCA13_uc010kys.1_Missense_Mutation_p.L1611V|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L266V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4536	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCGCAAGAACTTGGCAGCCAC	0.458000												
BCL7B	9275	broad.mit.edu	37	7	72954381	72954381	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:72954381G>A	uc003tyf.1	-	4	383	c.267C>T	c.(265-267)GAC>GAT	p.D89D	BCL7B_uc010lbf.1_RNA|BCL7B_uc003tye.1_RNA|BCL7B_uc003tyg.1_Intron	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	89							actin binding			ovary(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGTTTTCGTCTGAAAACC	0.547000												
PTPN12	5782	broad.mit.edu	37	7	77212905	77212905	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:77212905C>G	uc003ugh.2	+	4	410	c.319C>G	c.(319-321)CAA>GAA	p.Q107E	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	107	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGTAGCAACTCAAGGACCTTT	0.294000												
TRRAP	8295	broad.mit.edu	37	7	98513368	98513368	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:98513368A>T	uc003upp.2	+	19	2431	c.2222A>T	c.(2221-2223)AAC>ATC	p.N741I	TRRAP_uc011kis.1_Missense_Mutation_p.N741I|TRRAP_uc003upr.2_Missense_Mutation_p.N433I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	741					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGATTGTGAACAGCTCTATG	0.527000												
MOGAT3	346606	broad.mit.edu	37	7	100839530	100839530	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:100839530C>T	uc003uyc.2	-	6	976	c.809G>A	c.(808-810)CGC>CAC	p.R270H	MOGAT3_uc010lhr.2_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGAGACCGCGACCCCAGAA	0.602000												
MLL5	55904	broad.mit.edu	37	7	104753038	104753038	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:104753038C>T	uc003vcm.2	+	27	5369	c.4835C>T	c.(4834-4836)TCT>TTT	p.S1612F	MLL5_uc010ljc.2_Missense_Mutation_p.S1612F|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S346F	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1612	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TTTTTGCCCTCTCAGAACCCT	0.542000												
FOXP2	93986	broad.mit.edu	37	7	114174676	114174676	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:114174676T>G	uc003vhb.2	+	3	547	c.173T>G	c.(172-174)CTC>CGC	p.L58R	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.L58R|FOXP2_uc003vha.2_5'UTR|FOXP2_uc011kmu.1_Missense_Mutation_p.L58R|FOXP2_uc011kmv.1_Missense_Mutation_p.L58R|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.L58R|FOXP2_uc003vgw.2_Missense_Mutation_p.L58R|FOXP2_uc003vgx.2_Missense_Mutation_p.L58R|FOXP2_uc003vhd.2_Missense_Mutation_p.L58R|FOXP2_uc003vhc.2_Missense_Mutation_p.L58R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	58	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TTCTAGGCTCTCCAGGCAGCA	0.353000												
AHCYL2	23382	broad.mit.edu	37	7	129066383	129066383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:129066383C>T	uc011kov.1	+	16	1862	c.1808C>T	c.(1807-1809)CCC>CTC	p.P603L	AHCYL2_uc003vot.2_Missense_Mutation_p.P602L|AHCYL2_uc003vov.2_Missense_Mutation_p.P500L|AHCYL2_uc011kow.1_Missense_Mutation_p.P501L|AHCYL2_uc011kox.1_Missense_Mutation_p.P500L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	603					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						AAGAATGGGCCCTTCAAGCCT	0.527000												
MLL3	58508	broad.mit.edu	37	7	151874791	151874791	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr7:151874791C>G	uc003wla.2	-	38	7966	c.7747G>C	c.(7747-7749)GAG>CAG	p.E2583Q	MLL3_uc003wkz.2_Missense_Mutation_p.E1644Q|MLL3_uc003wky.2_Missense_Mutation_p.E92Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2583	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAGATGCCTCTACAACGCTG	0.557000			N		medulloblastoma							
GSR	2936	broad.mit.edu	37	8	30546716	30546716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:30546716G>A	uc003xih.1	-	9	1094	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	335					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTCGGGACCCGCCCAATGGCC	0.488000												
UNC5D	137970	broad.mit.edu	37	8	35631916	35631916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:35631916C>T	uc003xjr.1	+	16	2906	c.2578C>T	c.(2578-2580)CGG>TGG	p.R860W	UNC5D_uc003xjs.1_Missense_Mutation_p.R855W|UNC5D_uc003xju.1_Missense_Mutation_p.R436W	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	860	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATCAGACAGCGGATTTGTGC	0.488000												
PXDNL	137902	broad.mit.edu	37	8	52321637	52321637	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:52321637G>A	uc003xqu.3	-	17	2648	c.2547C>T	c.(2545-2547)CAC>CAT	p.H849H	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	849					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGGGTCGGCGTGCCGGGTGT	0.692000												
MOS	4342	broad.mit.edu	37	8	57026167	57026167	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:57026167C>T	uc011leb.1	-	1	375	c.375G>A	c.(373-375)ACG>ACA	p.T125T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	125	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGGCGTGCGCGTGCTGGCAG	0.612000												
CYP7B1	9420	broad.mit.edu	37	8	65536991	65536991	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:65536991T>G	uc003xvj.2	-	2	432	c.228A>C	c.(226-228)CAA>CAC	p.Q76H		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	76					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTCACCATGTTGCTTTTGAA	0.383000												
CNGB3	54714	broad.mit.edu	37	8	87645052	87645052	+	Silent	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87645052A>C	uc003ydx.2	-	11	1294	c.1248T>G	c.(1246-1248)ACT>ACG	p.T416T	CNGB3_uc010maj.2_Silent_p.T278T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	416	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TTTCAAATAAAGTTTGTGGTT	0.338000												
CNGB3	54714	broad.mit.edu	37	8	87751922	87751922	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87751922T>G	uc003ydx.2	-	2	218	c.172A>C	c.(172-174)ACT>CCT	p.T58P		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	58	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTGACTGGAGTTGACTTGGTT	0.318000												
CNBD1	168975	broad.mit.edu	37	8	87899806	87899806	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:87899806T>C	uc003ydy.2	+	2	173	c.125T>C	c.(124-126)TTG>TCG	p.L42S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	42										ovary(3)	3						TATGGCCAGTTGAATGCATTA	0.284000												
MMP16	4325	broad.mit.edu	37	8	89068435	89068435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:89068435T>C	uc003yeb.3	-	8	1576	c.1294A>G	c.(1294-1296)AGT>GGT	p.S432G		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	432	Hemopexin-like 2.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGAATTCCACTTCCAAGGGTT	0.418000												
RIMS2	9699	broad.mit.edu	37	8	105160990	105160990	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:105160990A>G	uc003yls.2	+	23	3543	c.3302A>G	c.(3301-3303)AAG>AGG	p.K1101R	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.K1090R|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGGCAAAAAGCGGCGCTCT	0.522000										HNSCC(12;0.0054)		
RIMS2	9699	broad.mit.edu	37	8	105263384	105263384	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:105263384T>A	uc003yls.2	+	27	4119	c.3878T>A	c.(3877-3879)GTT>GAT	p.V1293D	RIMS2_uc003ylp.2_Missense_Mutation_p.V1275D|RIMS2_uc003ylw.2_Missense_Mutation_p.V1282D|RIMS2_uc003ylq.2_Missense_Mutation_p.V1089D|RIMS2_uc003ylr.2_Missense_Mutation_p.V1114D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1337	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGGAAAAGTTTTACAGGTA	0.368000										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113933947	113933947	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:113933947T>G	uc003ynu.2	-	10	1701	c.1542A>C	c.(1540-1542)GAA>GAC	p.E514D	CSMD3_uc003ynt.2_Missense_Mutation_p.E474D|CSMD3_uc011lhx.1_Missense_Mutation_p.E410D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	514	Extracellular (Potential).|Sushi 2.					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						GGACATAATCTTCATCACAAG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116599678	116599678	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:116599678T>G	uc003ynz.2	-	4	2670	c.2211A>C	c.(2209-2211)AAA>AAC	p.K737N	TRPS1_uc011lhy.1_Missense_Mutation_p.K741N|TRPS1_uc003yny.2_Missense_Mutation_p.K750N|TRPS1_uc010mcy.2_Missense_Mutation_p.K737N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	737	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGCTCCTCTTTGATGGTGG	0.498000									Langer-Giedion_syndrome			
OC90	729330	broad.mit.edu	37	8	133048652	133048652	+	Silent	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr8:133048652A>G	uc003ytg.2	-	8	645	c.645T>C	c.(643-645)ACT>ACC	p.T215T	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	231					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGTCAGCCTCAGTCTCTGCAG	0.453000												
KCNV2	169522	broad.mit.edu	37	9	2718193	2718193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:2718193G>A	uc003zho.1	+	1	668	c.454G>A	c.(454-456)GAC>AAC	p.D152N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	152	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ATACTTCTTCGACCGCGACCC	0.652000												
PTPRD	5789	broad.mit.edu	37	9	8376048	8376048	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:8376048T>G	uc003zkk.2	-	38	5260	c.4549A>C	c.(4549-4551)ACC>CCC	p.T1517P	PTPRD_uc003zkp.2_Missense_Mutation_p.T1111P|PTPRD_uc003zkq.2_Missense_Mutation_p.T1110P|PTPRD_uc003zkr.2_Missense_Mutation_p.T1101P|PTPRD_uc003zks.2_Missense_Mutation_p.T1110P|PTPRD_uc003zkl.2_Missense_Mutation_p.T1508P|PTPRD_uc003zkm.2_Missense_Mutation_p.T1504P|PTPRD_uc003zkn.2_Missense_Mutation_p.T1106P|PTPRD_uc003zko.2_Missense_Mutation_p.T1107P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1517	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCCAGGCGGTGAACTGGAAT	0.458000										TSP Lung(15;0.13)		
KIF27	55582	broad.mit.edu	37	9	86506355	86506355	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:86506355A>C	uc004ana.2	-	6	1808	c.1664T>G	c.(1663-1665)CTT>CGT	p.L555R	KIF27_uc010mpw.2_Missense_Mutation_p.L555R|KIF27_uc010mpx.2_Missense_Mutation_p.L555R	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	555	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TGACAGGTTAAGTTTTGTTAG	0.358000												
NXNL2	158046	broad.mit.edu	37	9	91150520	91150520	+	Silent	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:91150520C>T	uc011ltj.1	+	1	505	c.171C>T	c.(169-171)GCC>GCT	p.A57A	NXNL2_uc004aqa.2_Silent_p.A57A	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	57	Thioredoxin.										0						CGCTGGTGGCCGAGGCGCGGC	0.692000												
TLR4	7099	broad.mit.edu	37	9	120475898	120475898	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:120475898T>G	uc004bjz.2	+	3	1783	c.1492T>G	c.(1492-1494)TTG>GTG	p.L498V	TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	498	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCTGAGAAACTTGACCTTCCT	0.448000												
SPTAN1	6709	broad.mit.edu	37	9	131329152	131329152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:131329152C>T	uc004bvl.3	+	2	246	c.133C>T	c.(133-135)CGA>TGA	p.R45*	SPTAN1_uc011mbg.1_Nonsense_Mutation_p.R45*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.R57*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.R45*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.R45*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	45	Spectrin 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGATTCCTATCGATTCCAGTT	0.468000												
FAM78A	286336	broad.mit.edu	37	9	134136516	134136516	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr9:134136516T>A	uc004cak.2	-	2	885	c.545A>T	c.(544-546)AAT>ATT	p.N182I	FAM78A_uc004caj.2_Missense_Mutation_p.N179I	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	182										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CCGGTAGATATTGGTGAGCTT	0.572000												
GPR143	4935	broad.mit.edu	37	X	9693809	9693809	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:9693809G>A	uc004cst.1	-	9	1252	c.1252C>T	c.(1252-1254)CTC>TTC	p.L418F		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	398	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGGGTTGGGAGAGCAGGGTCA	0.473000												
CNKSR2	22866	broad.mit.edu	37	X	21581553	21581553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:21581553G>A	uc004czx.1	+	13	1627	c.1591G>A	c.(1591-1593)GAG>AAG	p.E531K	CNKSR2_uc004czw.2_Missense_Mutation_p.E531K|CNKSR2_uc011mjn.1_Missense_Mutation_p.E482K|CNKSR2_uc011mjo.1_Missense_Mutation_p.E501K|CNKSR2_uc004czy.2_Missense_Mutation_p.E123K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	531					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TCCTGTGCCAGAGACCACACT	0.393000												
DMD	1756	broad.mit.edu	37	X	32486747	32486747	+	Silent	SNP	C	C	T	rs72468666		TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:32486747C>T	uc004dda.1	-	23	3274	c.3030G>A	c.(3028-3030)GCG>GCA	p.A1010A	DMD_uc004dcz.2_Silent_p.A887A|DMD_uc004dcy.1_Silent_p.A1006A|DMD_uc004ddb.1_Silent_p.A1002A|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1010	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCAGAGGGCGCTTTCTTCG	0.413000												
KIAA2022	340533	broad.mit.edu	37	X	73959949	73959949	+	Silent	SNP	A	A	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:73959949A>G	uc004eby.2	-	3	5060	c.4443T>C	c.(4441-4443)TCT>TCC	p.S1481S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1481					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTTTTTCAAAAGAAGCTGTCC	0.483000												
KLHL4	56062	broad.mit.edu	37	X	86887303	86887303	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:86887303T>G	uc004efb.2	+	7	1600	c.1418T>G	c.(1417-1419)GTT>GGT	p.V473G	KLHL4_uc004efa.2_Missense_Mutation_p.V473G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	473	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGAGTCGCAGTTATTGATAAT	0.403000												
SLC6A14	11254	broad.mit.edu	37	X	115586617	115586617	+	Silent	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:115586617G>A	uc004eqi.2	+	12	1703	c.1599G>A	c.(1597-1599)ACG>ACA	p.T533T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	533	Helical; Name=11; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TTGTAATTACGCCTATCCTTT	0.353000												
ATP1B4	23439	broad.mit.edu	37	X	119505008	119505008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chrX:119505008G>A	uc004esr.2	+	4	589	c.505G>A	c.(505-507)GTT>ATT	p.V169I	ATP1B4_uc004esq.2_Missense_Mutation_p.V165I|ATP1B4_uc011mtx.1_Missense_Mutation_p.V134I|ATP1B4_uc011mty.1_Missense_Mutation_p.V126I	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	169	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						CAACTTCAACGTTTCTGAACC	0.408000												
SPTA1	6708	broad.mit.edu	37	1	158590118	158590118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4369-01A-01D-1158-08	TCGA-BR-4369-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45e9bc01-ad92-4a4c-bb2d-c54999962c8d	124ae002-8b64-4eac-baa6-ece7e7482b43	g.chr1:158590117_158590117TC>T	uc001fst.1	-	43	6459	c.6260_6260GA>A	c.(6259-6261)gacfs	p.D2087fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2087					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAAGAAGTCCTCATGGTC	0.493