Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PLA2G2D	26279	broad.mit.edu	37	1	20440744	20440744	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:20440744C>G	uc001bcz.2	-	4	318	c.301G>C	c.(301-303)GGA>CGA	p.G101R	PLA2G2D_uc009vpo.2_RNA	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID precursor	101					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGCTTCCCTTGTCAGCT	0.557		NA								Multiple Myeloma(11;0.12)			13	37					0	0	0	0
HSPG2	3339	broad.mit.edu	37	1	22178186	22178186	+	Silent	SNP	G	G	A	rs150649767		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22178186G>A	uc001bfj.2	-	55	7051	c.7011C>T	c.(7009-7011)GCC>GCT	p.A2337A	HSPG2_uc009vqd.2_Silent_p.A2338A	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2337	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGCTGCCGGCAGCTGAGG	0.652		NA											31	78					0	0	0	0
C1QC	714	broad.mit.edu	37	1	22974125	22974125	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22974125C>T	uc001bgc.3	+	3	690	c.587C>T	c.(586-588)ACG>ATG	p.T196M	C1QC_uc001bga.3_Missense_Mutation_p.T196M|C1QC_uc001bgb.2_Missense_Mutation_p.T196M	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	196	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTGGCCACACGTCCAAAACC	0.597		NA											24	73					0	0	0	0
MYOM3	127294	broad.mit.edu	37	1	24434494	24434494	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:24434494G>A	uc001bin.3	-	3	394	c.231C>T	c.(229-231)TCC>TCT	p.S77S	MYOM3_uc001bio.2_Silent_p.S77S|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	77										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGACAGCTCGGAGGAGGCCG	0.642		NA											15	43					0	0	0	0
C1orf172	126695	broad.mit.edu	37	1	27276605	27276605	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:27276605G>A	uc001bni.1	-	4	1241	c.1152C>T	c.(1150-1152)ACC>ACT	p.T384T		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	384										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCTGTGTCGGTGCCCTGGA	0.597		NA											14	37					0	0	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979227	41979227	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:41979227C>T	uc001cgz.3	-	8	6878	c.5665G>A	c.(5665-5667)GCA>ACA	p.A1889T	HIVEP3_uc001cha.3_Missense_Mutation_p.A1889T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1889					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGCAGTGCATGTGGTGGG	0.657		NA											9	27					0	0	0	0
CCDC24	149473	broad.mit.edu	37	1	44461731	44461731	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:44461731C>G	uc001clj.2	+	9	994	c.823C>G	c.(823-825)CAG>GAG	p.Q275E	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.A228A|CCDC24_uc009vxc.2_Missense_Mutation_p.Q239E	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	275											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACCTCGAGGCCAGTCGGCTAC	0.682		NA											22	51					0	0	0	0
OSBPL9	114883	broad.mit.edu	37	1	52249590	52249590	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:52249590C>T	uc001cst.2	+	18	1536	c.1517C>T	c.(1516-1518)TCA>TTA	p.S506L	OSBPL9_uc001css.2_Missense_Mutation_p.S511L|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S507L|OSBPL9_uc001csu.2_Missense_Mutation_p.S516L|OSBPL9_uc001csv.2_Missense_Mutation_p.S341L|OSBPL9_uc001csw.2_Missense_Mutation_p.S493L|OSBPL9_uc001csy.2_Missense_Mutation_p.S328L|OSBPL9_uc001csz.2_Missense_Mutation_p.S328L|OSBPL9_uc001cta.2_Missense_Mutation_p.S396L|OSBPL9_uc001ctb.2_Missense_Mutation_p.S291L	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	506					lipid transport		lipid binding			central_nervous_system(1)	1						TATTCAGTTTCAGCCTTTTAT	0.363		NA											15	25					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55167769	55167769	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:55167769G>C	uc010ooe.1	+	20	3616	c.3292G>C	c.(3292-3294)GAG>CAG	p.E1098Q	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.E616Q|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.E300Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1098	HEAT 3.					integral to membrane	binding				0						CCAGGCACGAGAGGTCGTGCG	0.607		NA											14	30					0	0	0	0
PDE4B	5142	broad.mit.edu	37	1	66723334	66723334	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:66723334G>A	uc001dcn.2	+	5	672	c.481G>A	c.(481-483)GGC>AGC	p.G161S	PDE4B_uc009war.2_Missense_Mutation_p.G69S|PDE4B_uc001dco.2_Missense_Mutation_p.G161S|PDE4B_uc001dcp.2_Missense_Mutation_p.G146S	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	161					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACCAGACACGGCGATGACTT	0.368		NA											46	124					0	0	0	0
FAM73A	374986	broad.mit.edu	37	1	78340631	78340631	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:78340631G>A	uc001dhx.2	+	16	1813	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	FAM73A_uc010ork.1_Missense_Mutation_p.R595H|FAM73A_uc010orl.1_Missense_Mutation_p.R557H	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	594						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TTACTCATTCGCCGCACTGAG	0.423		NA											11	36					0	0	0	0
GBP4	115361	broad.mit.edu	37	1	89651007	89651007	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:89651007A>G	uc001dnb.2	-	11	1969	c.1853T>C	c.(1852-1854)ATG>ACG	p.M618T		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	618						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGTGACAATCATTATGTTGCT	0.353		NA											9	42					0	0	0	0
C1orf114	57821	broad.mit.edu	37	1	169390628	169390628	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:169390628T>C	uc001gga.1	-	3	1209	c.1041A>G	c.(1039-1041)GAA>GAG	p.E347E	C1orf114_uc001gfz.1_Silent_p.E347E|C1orf114_uc009wvq.1_Silent_p.E347E|C1orf114_uc001ggb.2_Silent_p.E347E|C1orf114_uc001ggc.1_Silent_p.E347E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	347	Potential.										0	all_hematologic(923;0.208)					CTCTCTTTTCTTCTAGTTGTT	0.353		NA											14	41					0	0	0	0
NAV1	89796	broad.mit.edu	37	1	201750276	201750276	+	Missense_Mutation	SNP	G	G	A	rs143487790		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:201750276G>A	uc001gwu.2	+	5	1849	c.1502G>A	c.(1501-1503)CGG>CAG	p.R501Q	NAV1_uc001gwv.1_Missense_Mutation_p.R9Q|NAV1_uc001gww.1_Missense_Mutation_p.R110Q|NAV1_uc001gwx.2_Missense_Mutation_p.R110Q|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TCTAAGTGGCGGAGGGAGCGG	0.542		NA											31	69					0	0	0	0
ESRRG	2104	broad.mit.edu	37	1	216680338	216680338	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:216680338T>C	uc001hkw.1	-	7	1486	c.1320A>G	c.(1318-1320)CTA>CTG	p.L440L	ESRRG_uc001hky.1_Silent_p.L417L|ESRRG_uc009xdp.1_Silent_p.L417L|ESRRG_uc001hkz.1_Silent_p.L378L|ESRRG_uc010puc.1_Silent_p.L417L|ESRRG_uc001hla.1_Silent_p.L417L|ESRRG_uc001hlb.1_Silent_p.L417L|ESRRG_uc010pud.1_Silent_p.L248L|ESRRG_uc001hlc.1_Silent_p.L417L|ESRRG_uc001hld.1_Silent_p.L417L|ESRRG_uc001hkx.1_Silent_p.L452L|ESRRG_uc009xdo.1_Silent_p.L417L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	440					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)	CTTTGCCTTCTAGTTTGATGT	0.493		NA											11	56					0	0	0	0
C1orf65	164127	broad.mit.edu	37	1	223567884	223567884	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:223567884C>T	uc001hoa.2	+	1	1170	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	356										central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		CAGGAGAGCCCGCGCCAGGAG	0.687		NA											6	11					0	0	0	0
PLD5	200150	broad.mit.edu	37	1	242287898	242287898	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:242287898G>C	uc001hzn.1	-	6	932	c.805C>G	c.(805-807)CTA>GTA	p.L269V	PLD5_uc001hzl.3_Missense_Mutation_p.L207V|PLD5_uc001hzm.3_Missense_Mutation_p.L59V|PLD5_uc001hzo.1_Missense_Mutation_p.L177V			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	269						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAACTATATAGAGCAAATATC	0.368		NA											7	25					0	0	0	0
RET	5979	broad.mit.edu	37	10	43604533	43604533	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:43604533C>T	uc001jal.2	+	6	1308	c.1118C>T	c.(1117-1119)GCG>GTG	p.A373V	RET_uc001jak.1_Missense_Mutation_p.A373V|RET_uc010qez.1_Missense_Mutation_p.A119V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	373	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A373A(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGCAGCTGGCGGTGCTGGTC	0.622		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				16	36					0	0	0	0
CCAR1	55749	broad.mit.edu	37	10	70546361	70546361	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:70546361A>G	uc001joo.2	+	21	2911	c.2792A>G	c.(2791-2793)TAT>TGT	p.Y931C	CCAR1_uc010qiz.1_Missense_Mutation_p.Y916C|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	931					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						GCTTTTGTTTATTTTGATCAA	0.313		NA											16	31					0	0	0	0
PKP3	11187	broad.mit.edu	37	11	399010	399010	+	Missense_Mutation	SNP	G	G	A	rs141688536	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:399010G>A	uc001lpc.2	+	5	1163	c.1087G>A	c.(1087-1089)GTG>ATG	p.V363M		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	363	ARM 2.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCAGGCCGTGCCTAGGCT	0.602		NA											11	81					0	0	0	0
LRRC56	115399	broad.mit.edu	37	11	552187	552187	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:552187T>A	uc010qvz.1	+	12	1641	c.1136T>A	c.(1135-1137)TTC>TAC	p.F379Y		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	379										skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTCTGACTTCCTGGCCTTG	0.672		NA											17	56					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	611692	611692	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:611692C>T	uc001lqe.2	+	18	4996	c.4865C>T	c.(4864-4866)GCG>GTG	p.A1622V	PHRF1_uc010qwc.1_Missense_Mutation_p.A1621V|PHRF1_uc010qwd.1_Missense_Mutation_p.A1620V|PHRF1_uc010qwe.1_Missense_Mutation_p.A1618V|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622							RNA polymerase binding|zinc ion binding				0						CTGGTGAAGGCGTACGTGGAC	0.602		NA											6	48					0	0	0	0
DCHS1	8642	broad.mit.edu	37	11	6654065	6654065	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:6654065G>A	uc001mem.1	-	6	3088	c.2678C>T	c.(2677-2679)GCC>GTC	p.A893V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	893	Cadherin 8.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGGAAAGGCAGGGGAGTT	0.582		NA											4	30					0	0	0	0
SWAP70	23075	broad.mit.edu	37	11	9769601	9769601	+	Missense_Mutation	SNP	G	G	C	rs141564084	by1000genomes	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:9769601G>C	uc001mhw.2	+	10	1651	c.1552G>C	c.(1552-1554)GAG>CAG	p.E518Q	SWAP70_uc001mhx.2_Missense_Mutation_p.E460Q	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	518	Potential.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGAGCAGTACGAGGTAATGAG	0.438		NA											15	44					0	0	0	0
SAAL1	113174	broad.mit.edu	37	11	18113850	18113850	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:18113850C>A	uc001mnq.2	-	4	405	c.355G>T	c.(355-357)GGT>TGT	p.G119C	SAAL1_uc001mnr.2_Missense_Mutation_p.G119C|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.G119C	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	119					acute-phase response	extracellular region	binding				0						GCCATATTACCTAAAATTCCC	0.308		NA											11	23					7.93e-07	1.25e-06	1	0
GYLTL1B	120071	broad.mit.edu	37	11	45950253	45950253	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:45950253C>T	uc001nbv.1	+	14	2134	c.2023C>T	c.(2023-2025)CGC>TGC	p.R675C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R644C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R675C|GYLTL1B_uc001nby.1_Missense_Mutation_p.R358C|GYLTL1B_uc001nbz.1_Silent_p.P23P	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	675	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		GGACATCTCCCGCTTCCGCTC	0.632		NA											29	83					0	0	0	0
CKAP5	9793	broad.mit.edu	37	11	46765612	46765612	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:46765612C>G	uc001ndi.1	-	44	6170	c.6060G>C	c.(6058-6060)TTG>TTC	p.L2020F	CKAP5_uc009ylg.1_Missense_Mutation_p.L1913F|CKAP5_uc001ndj.1_Missense_Mutation_p.L1960F|CKAP5_uc001ndh.1_Missense_Mutation_p.L949F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	2020					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GTCTTTTTTTCAAGTCGTCTA	0.493		NA											24	65					0	0	0	0
OR4C15	81309	broad.mit.edu	37	11	55322294	55322294	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:55322294T>A	uc010rig.1	+	1	512	c.512T>A	c.(511-513)ATG>AAG	p.M171K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTCACAGCCATGGCCTATGAT	0.498		NA								HNSCC(20;0.049)			77	76					0	0	0	0
OR9G4	283189	broad.mit.edu	37	11	56511135	56511135	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:56511135C>T	uc010rjo.1	-	1	153	c.153G>A	c.(151-153)TTG>TTA	p.L51L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	51	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ACAAGGTTATCAAATAGAGCA	0.413		NA											15	48					0	0	0	0
SLC43A1	8501	broad.mit.edu	37	11	57259321	57259321	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57259321G>A	uc001nkk.2	-	9	1004	c.886C>T	c.(886-888)CGC>TGC	p.R296C	SLC43A1_uc001nkl.2_Missense_Mutation_p.R296C	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	296					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						AGGCTCTTGCGTAAGGGGACA	0.607		NA									OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	46					0	0	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310254	57310254	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57310254C>T	uc009ymh.1	+	2	193	c.193C>T	c.(193-195)CCC>TCC	p.P65S		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	47										ovary(1)	1						TGAGGGGCCTCCCACTGAGTC	0.577		NA											10	17					0	0	0	0
OR5B3	441608	broad.mit.edu	37	11	58170743	58170743	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:58170743A>G	uc010rkf.1	-	1	140	c.140T>C	c.(139-141)ATA>ACA	p.I47T		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCCCAGAATATCAATACAAT	0.423		NA											3	101					0	0	0	0
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64033975C>G	uc001nzb.2	+	29	3365	c.3365C>G	c.(3364-3366)ACG>AGG	p.T1122R	PLCB3_uc009ypg.1_Missense_Mutation_p.T1122R|PLCB3_uc009yph.1_Missense_Mutation_p.T1055R|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						AGGGAACTGACGGAGATTAAC	0.652		NA											8	49					0	0	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109596	64109596	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64109596G>C	uc001nzy.2	+	8	850	c.806G>C	c.(805-807)CGT>CCT	p.R269P	CCDC88B_uc009ypo.1_Missense_Mutation_p.R266P|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	269	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CAGCTGCGGCGTCTGCGGCAG	0.682		NA											11	25					0	0	0	0
KAT5	10524	broad.mit.edu	37	11	65486406	65486406	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65486406A>C	uc001ofi.2	+	13	1638	c.1388A>C	c.(1387-1389)AAT>ACT	p.N463T	KAT5_uc001ofj.2_Missense_Mutation_p.N411T|KAT5_uc001ofk.2_Missense_Mutation_p.N496T|KAT5_uc010roo.1_Missense_Mutation_p.N444T|KAT5_uc001ofl.2_Missense_Mutation_p.N252T|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	463					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						CAGTACCTCAATCTCATCAAC	0.532		NA											11	36					0	0	0	0
DKFZp761E198	91056	broad.mit.edu	37	11	65547050	65547050	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547050G>A	uc001ofo.3	-	1	773	c.743C>T	c.(742-744)CCG>CTG	p.P248L		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	248	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		GAAGAGTGCCGGTGGCTGTCC	0.647		NA											5	24					0	0	0	0
DKFZp761E198	91056	broad.mit.edu	37	11	65547195	65547195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547195G>A	uc001ofo.3	-	1	628	c.598C>T	c.(598-600)CGA>TGA	p.R200*		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	200	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CTGTGCTCTCGTGCTGTAAGG	0.667		NA											8	108					0	0	0	0
ADRBK1	156	broad.mit.edu	37	11	67048572	67048572	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:67048572G>C	uc009yrn.1	+	8	830	c.564G>C	c.(562-564)ATG>ATC	p.M188I	ADRBK1_uc009yrm.1_Missense_Mutation_p.M188I	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	188	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCTGACCATGAATGACTTCA	0.662		NA											22	64					0	0	0	0
C11orf30	56946	broad.mit.edu	37	11	76255467	76255467	+	Silent	SNP	G	G	A	rs149047897		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:76255467G>A	uc001oxl.2	+	19	3017	c.2874G>A	c.(2872-2874)CCG>CCA	p.P958P	C11orf30_uc001oxm.2_Silent_p.P860P|C11orf30_uc010rsb.1_Silent_p.P973P|C11orf30_uc010rsc.1_Silent_p.P959P|C11orf30_uc001oxn.2_Silent_p.P959P|C11orf30_uc010rsd.1_Silent_p.P867P|C11orf30_uc001oxo.1_Silent_p.P312P|C11orf30_uc010rse.1_Silent_p.P205P|C11orf30_uc001oxp.2_Silent_p.P58P	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	958	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GCCAGCCCCCGCTGGAACAGA	0.517		NA											24	80					0	0	0	0
ME3	10873	broad.mit.edu	37	11	86270821	86270821	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:86270821G>C	uc001pbz.2	-	2	482	c.228C>G	c.(226-228)CAC>CAG	p.H76Q	ME3_uc001pca.2_Missense_Mutation_p.H76Q|ME3_uc009yvk.2_Missense_Mutation_p.H76Q|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	76					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GGATTAGGCCGTGGATTCCAA	0.522		NA											28	106					0	0	0	0
MTMR2	8898	broad.mit.edu	37	11	95569429	95569429	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:95569429G>A	uc001pfu.2	-	14	1906	c.1653C>T	c.(1651-1653)TTC>TTT	p.F551F	MTMR2_uc001pfv.2_Silent_p.F479F|MTMR2_uc001pfs.2_Silent_p.F479F|MTMR2_uc001pft.2_Silent_p.F479F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	551	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGGATTAGTGAAGTCTTCCA	0.443		NA											16	106					0	0	0	0
DDI1	414301	broad.mit.edu	37	11	103908268	103908268	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:103908268C>A	uc001phr.2	+	1	961	c.718C>A	c.(718-720)CAA>AAA	p.Q240K	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	240					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)		GAGTTTTGGACAAGTGACGAT	0.478		NA											33	179					5.83e-16	9.67e-16	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106888551	106888551	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:106888551C>G	uc001pjg.1	-	1	621	c.231G>C	c.(229-231)AGG>AGC	p.R77S	GUCY1A2_uc010rvo.1_Missense_Mutation_p.R77S|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R77S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	77					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GCTGCACCCTCCTGGCCCcgg	0.498		NA											4	9					0	0	0	0
DLAT	1737	broad.mit.edu	37	11	111899661	111899661	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:111899661C>G	uc001pmo.2	+	4	1311	c.652C>G	c.(652-654)CAC>GAC	p.H218D	DLAT_uc009yyk.1_Missense_Mutation_p.H218D|DLAT_uc010rwr.1_Intron	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	218					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATATCCCCCTCACATGCAGGT	0.517		NA											33	87					0	0	0	0
HYOU1	10525	broad.mit.edu	37	11	118922623	118922623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:118922623C>T	uc001puu.2	-	12	1439	c.1246G>A	c.(1246-1248)GCC>ACC	p.A416T	HYOU1_uc001put.2_Missense_Mutation_p.A381T|HYOU1_uc010ryu.1_Missense_Mutation_p.A436T|HYOU1_uc010ryv.1_Missense_Mutation_p.A305T|HYOU1_uc001pux.3_Missense_Mutation_p.A416T|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A416T	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	416						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCCCCATGGCGGCTGCTTCA	0.582		NA											56	47					0	0	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523424	49523424	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:49523424C>G	uc001rtm.2	-	2	306	c.85G>C	c.(85-87)GGC>CGC	p.G29R	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_5'UTR|TUBA1B_uc001rtl.2_5'UTR|TUBA1B_uc001rtn.2_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						GGCTGGATGCCGTGTTCCAGG	0.577		NA											13	88					0	0	0	0
KRT1	3848	broad.mit.edu	37	12	53069099	53069099	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53069099C>A	uc001sau.1	-	9	1872	c.1813G>T	c.(1813-1815)GGC>TGC	p.G605C	KRT1_uc001sav.1_Missense_Mutation_p.G598C	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	605	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						CTCCCGCCGCCAGAGCCCCGg	0.348		NA											7	53					2.23e-06	3.51e-06	1	0
KRT4	3851	broad.mit.edu	37	12	53208022	53208022	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53208022C>T	uc001saz.2	-	1	314	c.43G>A	c.(43-45)GGG>AGG	p.G15R		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						CCATCCTTCCCGCACCCGTTG	0.527		NA											33	76					0	0	0	0
PRIM1	5557	broad.mit.edu	37	12	57145981	57145981	+	Silent	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:57145981T>A	uc001smd.2	-	1	166	c.102A>T	c.(100-102)GGA>GGT	p.G34G	PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_RNA|PRIM1_uc001smf.2_Silent_p.G34G	NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	34					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0						CTCCATCACCTCCACCGTAGT	0.473		NA											9	13					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657084	81657084	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:81657084C>A	uc001szo.1	-	31	3802	c.3641G>T	c.(3640-3642)GGG>GTG	p.G1214V	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1113										ovary(3)|lung(2)|pancreas(1)	6						TTCTGAGGACCCAGGCATCAT	0.453		NA											11	27					3.86e-05	5.95e-05	1	0
SLC25A3	5250	broad.mit.edu	37	12	98987826	98987826	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:98987826G>C	uc001tfo.2	+	2	190	c.70G>C	c.(70-72)GAT>CAT	p.D24H	SLC25A3_uc001tfm.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfn.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfp.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Missense_Mutation_p.D24H|SLC25A3_uc001tft.2_Missense_Mutation_p.D24H	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	24					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTGGTGCACGATGGTCTCGG	0.687		NA											9	22					0	0	0	0
ATXN2	6311	broad.mit.edu	37	12	111993687	111993687	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:111993687C>A	uc001tsj.2	-	2	930	c.768G>T	c.(766-768)ACG>ACT	p.T256T	ATXN2_uc001tsh.2_5'UTR|ATXN2_uc001tsi.2_Intron|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_5'UTR	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	256					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						AGTTACTCACCGTAGACTGAG	0.328		NA											6	19					3.6e-05	5.57e-05	1	0
SLC24A6	80024	broad.mit.edu	37	12	113744331	113744331	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:113744331C>G	uc001tvc.2	-	14	1671	c.1461G>C	c.(1459-1461)GCG>GCC	p.A487A	SLC24A6_uc001tuz.2_Silent_p.A192A|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.A225A	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	487	Extracellular (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						AGGCGGAGAACGCCATCCGTG	0.602		NA											3	38					0	0	0	0
KSR2	283455	broad.mit.edu	37	12	117923489	117923489	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:117923489T>C	uc001two.2	-	15	2195	c.2140A>G	c.(2140-2142)AAG>GAG	p.K714E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	743	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGTCCCTTACAGAGGCTG	0.443		NA											11	48					0	0	0	0
POSTN	10631	broad.mit.edu	37	13	38164592	38164592	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:38164592A>G	uc001uwo.3	-	4	476	c.358T>C	c.(358-360)TCA>CCA	p.S120P	POSTN_uc001uwp.3_Missense_Mutation_p.S120P|POSTN_uc001uwr.2_Missense_Mutation_p.S120P|POSTN_uc001uwq.2_Missense_Mutation_p.S120P|POSTN_uc010teu.1_Missense_Mutation_p.S120P|POSTN_uc010tev.1_Missense_Mutation_p.S120P|POSTN_uc010tew.1_Missense_Mutation_p.S120P|POSTN_uc010tex.1_Missense_Mutation_p.S35P	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	120	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAGTTTTGAGGCGTCAGAA	0.448		NA											8	26					0	0	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393507	42393507	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:42393507G>A	uc001uyj.2	-	15	1786	c.1716C>T	c.(1714-1716)ATC>ATT	p.I572I	KIAA0564_uc001uyk.2_Silent_p.I572I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	572						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AGGAGGGATGGATAGGAAAAA	0.378		NA											11	30					0	0	0	0
PCDH8	5100	broad.mit.edu	37	13	53422221	53422221	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:53422221C>T	uc001vhi.2	-	1	554	c.351G>A	c.(349-351)CGG>CGA	p.R117R	PCDH8_uc001vhj.2_Silent_p.R117R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	117	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTGCACCAGCCGGAACTGCT	0.706		NA											26	47					0	0	0	0
PCDH9	5101	broad.mit.edu	37	13	67801103	67801103	+	Silent	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:67801103A>T	uc001vik.2	-	2	2162	c.1470T>A	c.(1468-1470)ACT>ACA	p.T490T	PCDH9_uc001vil.2_Silent_p.T490T|PCDH9_uc010thl.1_Silent_p.T490T|PCDH9_uc001vin.3_Silent_p.T490T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	490	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGCACTAATAGTTGTTAAGT	0.413		NA											27	62					0	0	0	0
FARP1	10160	broad.mit.edu	37	13	99061621	99061621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:99061621G>T	uc001vnj.2	+	14	1780	c.1444G>T	c.(1444-1446)GAG>TAG	p.E482*	FARP1_uc001vnh.2_Nonsense_Mutation_p.E482*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	482					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCACCTTTCCGAGCTGTCTGT	0.522		NA											4	73					0.000602214	0.000904697	1	0
COL4A1	1282	broad.mit.edu	37	13	110831718	110831718	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:110831718G>A	uc001vqw.3	-	30	2366	c.2244C>T	c.(2242-2244)CCC>CCT	p.P748P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	748	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAATGCCGGGAAGACCTG	0.562		NA											19	70					0	0	0	0
COL4A2	1284	broad.mit.edu	37	13	111090996	111090996	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:111090996T>A	uc001vqx.2	+	15	1182	c.893T>A	c.(892-894)ATG>AAG	p.M298K		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	298	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGGAATCATGGGCTTTCCT	0.463		NA											31	76					0	0	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113210456	113210456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:113210456G>A	uc001vse.1	-	6	818	c.631C>T	c.(631-633)CAG>TAG	p.Q211*	TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q201*|TUBGCP3_uc001vsf.2_Nonsense_Mutation_p.Q211*|TUBGCP3_uc001vsg.1_Nonsense_Mutation_p.Q211*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	211					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAGAAGGCTGATTTGCAGTT	0.493		NA											18	42					0	0	0	0
TFDP1	7027	broad.mit.edu	37	13	114240088	114240088	+	Splice_Site	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:114240088G>A	uc001vtw.2	+	2	149	c.-63_splice	c.e2-1		TFDP1_uc010tkd.1_Splice_Site|TFDP1_uc010tke.1_Splice_Site|TFDP1_uc001vty.3_5'Flank|TFDP1_uc001vtv.2_Splice_Site|TFDP1_uc010agx.2_Splice_Site	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ttttttACCAGAAAAATCATT	0.294		NA								TSP Lung(29;0.18)			8	20					0	0	0	0
TMEM90A	646658	broad.mit.edu	37	14	74876129	74876129	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:74876129C>T	uc001xpx.2	-	2	567	c.319G>A	c.(319-321)GGA>AGA	p.G107R		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	107					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		TGGCCAGGTCCTGTGGGCTGC	0.617		NA											32	66					0	0	0	0
MTA1	9112	broad.mit.edu	37	14	105936520	105936520	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:105936520G>A	uc001yqx.2	+	21	2303	c.2116G>A	c.(2116-2118)GTC>ATC	p.V706I	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.V471I|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	706					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCTGCGCCCGTCAACGACGA	0.507		NA											10	22					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26828523	26828523	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:26828523C>T	uc001zaz.2	-	5	642	c.500G>A	c.(499-501)AGA>AAA	p.R167K	GABRB3_uc010uae.1_Missense_Mutation_p.R82K|GABRB3_uc001zba.2_Missense_Mutation_p.R167K|GABRB3_uc001zbb.2_Missense_Mutation_p.R223K	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	167	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGGGGGTATCTCCTGAGGTC	0.453		NA											21	55					0	0	0	0
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:42457994C>T	uc001zpd.2	-	18	1885	c.1734G>A	c.(1732-1734)CCG>CCA	p.P578P	VPS39_uc001zpc.2_Silent_p.P567P|VPS39_uc001zpb.2_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473		NA											8	40					0	0	0	0
MYO5A	4644	broad.mit.edu	37	15	52672101	52672101	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:52672101C>G	uc002aby.2	-	17	2261	c.2017G>C	c.(2017-2019)GAT>CAT	p.D673H	MYO5A_uc002abx.3_Missense_Mutation_p.D673H|MYO5A_uc010uge.1_Missense_Mutation_p.D542H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	673	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCTCATCAAACCTACAA	0.493		NA											18	53					0	0	0	0
DAPK2	23604	broad.mit.edu	37	15	64204146	64204146	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:64204146C>T	uc002amr.2	-	11	1024	c.993G>A	c.(991-993)TCG>TCA	p.S331S	DAPK2_uc010uim.1_RNA	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	331	Calmodulin-binding.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		TCTTCATCAGCGAGCGGGTGA	0.577		NA											9	22					0	0	0	0
HCN4	10021	broad.mit.edu	37	15	73616247	73616247	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:73616247G>C	uc002avp.2	-	8	3181	c.2187C>G	c.(2185-2187)CTC>CTG	p.L729L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	729	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CGCCGGAGTTGAGGTCGTGCT	0.592		NA											23	68					0	0	0	0
NEIL1	79661	broad.mit.edu	37	15	75641450	75641450	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:75641450C>G	uc002bad.2	+	2	710	c.204C>G	c.(202-204)CCC>CCG	p.P68P	NEIL1_uc002bae.2_Silent_p.P154P	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	68					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						GGGCCCAGCCCCAACAGGAGC	0.657		NA						BER_DNA_glycosylases					13	44					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2159316	2159316	+	Missense_Mutation	SNP	C	C	T	rs137905643	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:2159316C>T	uc002cos.1	-	15	6061	c.5852G>A	c.(5851-5853)CGG>CAG	p.R1951Q	PKD1_uc002cot.1_Missense_Mutation_p.R1951Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1951	Extracellular (Potential).|PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GTTTTTGCCCCGCACGCTCAC	0.706		NA											5	28					0	0	0	0
MGRN1	23295	broad.mit.edu	37	16	4714767	4714767	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4714767G>T	uc002cwz.2	+	6	755	c.619G>T	c.(619-621)GAA>TAA	p.E207*	MGRN1_uc002cxa.2_Nonsense_Mutation_p.E207*|MGRN1_uc010btx.2_Nonsense_Mutation_p.E207*|MGRN1_uc010btw.2_Nonsense_Mutation_p.E207*|MGRN1_uc002cxb.2_Nonsense_Mutation_p.E207*|MGRN1_uc010uxo.1_Nonsense_Mutation_p.E207*|MGRN1_uc010uxp.1_Nonsense_Mutation_p.E207*|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	207					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						TGTGGTGGACGAAGGAGATGG	0.592		NA											18	61					1.68e-08	2.68e-08	1	0
NUDT16L1	84309	broad.mit.edu	37	16	4745024	4745024	+	Missense_Mutation	SNP	C	C	G	rs143151090		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4745024C>G	uc002cxe.2	+	3	492	c.480C>G	c.(478-480)TTC>TTG	p.F160L	NUDT16L1_uc002cxf.1_3'UTR	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN	syndesmos	160	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity				0						TCCCCAACTTCCTGAGCAACG	0.642		NA											8	46					0	0	0	0
GGA2	23062	broad.mit.edu	37	16	23498078	23498078	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:23498078C>G	uc002dlq.2	-	7	689	c.613G>C	c.(613-615)GAG>CAG	p.E205Q	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	205	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		TGAAGGTCCTCGGGGTGGTTG	0.507		NA											64	154					0	0	0	0
SEPT1	1731	broad.mit.edu	37	16	30393647	30393647	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30393647G>C	uc002dxy.2	-	3	230	c.43C>G	c.(43-45)CTG>GTG	p.L15V	SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.L62V	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	15					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TTGCGGTGCAGCTGGTTGGGG	0.582		NA											11	39					0	0	0	0
ZNF768	79724	broad.mit.edu	37	16	30536711	30536711	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30536711G>A	uc002dyk.3	-	2	926	c.750C>T	c.(748-750)GGC>GGT	p.G250G	ZNF768_uc010vex.1_Silent_p.G219G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.G219G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CCCTGGCCCGGCCACCCCGCC	0.662		NA											4	83					0	0	0	0
OGFOD1	55239	broad.mit.edu	37	16	56503929	56503929	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:56503929G>A	uc002ejb.2	+	9	1016	c.915G>A	c.(913-915)ACG>ACA	p.T305T	OGFOD1_uc002ejc.2_Silent_p.T165T	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	305							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	AGAAATTCACGAAAGTCTGTG	0.478		NA											9	36					0	0	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487539	67487539	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67487539G>A	uc002ete.1	-	2	310	c.210C>T	c.(208-210)ATC>ATT	p.I70I	ATP6V0D1_uc010vjo.1_Silent_p.I70I|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	70					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532		NA											23	52					0	0	0	0
FAM65A	79567	broad.mit.edu	37	16	67578271	67578271	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67578271G>A	uc010vjp.1	+	15	2826	c.2730G>A	c.(2728-2730)ACG>ACA	p.T910T	FAM65A_uc002eth.2_Silent_p.T890T|FAM65A_uc010cej.2_Silent_p.T893T|FAM65A_uc010vjq.1_Silent_p.T904T|FAM65A_uc002etk.2_Silent_p.T888T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	894						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTCAGCACGGGGTGTCCAG	0.637		NA											6	115					0	0	0	0
WWP2	11060	broad.mit.edu	37	16	69965757	69965757	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:69965757G>A	uc002exu.1	+	17	1735	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	WWP2_uc002exv.1_Missense_Mutation_p.R549H|WWP2_uc010vlm.1_Missense_Mutation_p.R433H|WWP2_uc010vln.1_Missense_Mutation_p.R167H|WWP2_uc002exw.1_Missense_Mutation_p.R110H|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	549	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						ATCATCATGCGTGGCGAGGAG	0.622		NA											37	117					0	0	0	0
CDYL2	124359	broad.mit.edu	37	16	80638305	80638305	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:80638305C>T	uc002ffs.2	-	7	1606	c.1501G>A	c.(1501-1503)GAC>AAC	p.D501N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	501						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TAAATTTTGTCCTGCAGGTAG	0.557		NA											23	66					0	0	0	0
PKD1L2	114780	broad.mit.edu	37	16	81193337	81193337	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:81193337G>A	uc002fgh.1	-	23	3786	c.3786C>T	c.(3784-3786)GAC>GAT	p.D1262D	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1262	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTGGCTCCAGGTCAGACTCAG	0.592		NA											5	17					0	0	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132678	84132678	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:84132678C>G	uc002fhi.2	-	3	903	c.401G>C	c.(400-402)CGT>CCT	p.R134P		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	134					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CTTGAGGGAACGAAAGACTTT	0.328		NA											18	71					0	0	0	0
TIMM22	29928	broad.mit.edu	37	17	902756	902756	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:902756G>A	uc002fsc.2	+	3	466	c.440G>A	c.(439-441)CGG>CAG	p.R147Q		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	147					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACAGTACCGGGGAACATCA	0.488		NA											39	101					0	0	0	0
DPH1	1801	broad.mit.edu	37	17	1936810	1936810	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:1936810C>T	uc002fts.2	+	2	106	c.88C>T	c.(88-90)CGG>TGG	p.R30W	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.R25W|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Missense_Mutation_p.R40W	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	30					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						TCGGGCCCCTCGGGGCCGCGT	0.468		NA											27	75					0	0	0	0
KIAA0664	23277	broad.mit.edu	37	17	2597272	2597272	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:2597272G>C	uc002fuy.1	-	19	3122	c.3036C>G	c.(3034-3036)TAC>TAG	p.Y1012*	KIAA0664_uc002fux.1_Nonsense_Mutation_p.Y945*|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1012							binding			breast(2)	2						GCATGGCTCCGTAGACGTTGT	0.642		NA											9	29					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7578395G>A	uc002gim.2	-	5	729	c.535C>T	c.(535-537)CAT>TAT	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	29					0	0	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638738	16638738	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:16638738G>A	uc002gqk.1	+	12	3229	c.3153G>A	c.(3151-3153)TTG>TTA	p.L1051L	CCDC144A_uc002gql.1_Silent_p.L521L|LOC162632_uc010cpj.1_RNA	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1051	Potential.										0						AAAATATGTTGCTTCGACAGC	0.378		NA											10	26					0	0	0	0
NMT1	4836	broad.mit.edu	37	17	43180413	43180413	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43180413C>T	uc002ihz.2	+	9	1106	c.1088C>T	c.(1087-1089)ACG>ATG	p.T363M	NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Missense_Mutation_p.T23M	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	363					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				TTTCACCTTACGCCCGTCATG	0.547		NA											23	70					0	0	0	0
IMP5	162540	broad.mit.edu	37	17	43923892	43923892	+	Silent	SNP	C	C	T	rs140347532	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43923892C>T	uc010wka.1	+	1	1620	c.1620C>T	c.(1618-1620)GCC>GCT	p.A540A	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	540	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		TCGGCTGTGCCCCTTCAGCTG	0.642		NA											27	49					0	0	0	0
MAPT	4137	broad.mit.edu	37	17	44060865	44060865	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:44060865C>A	uc002ijr.3	+	6	1015	c.695C>A	c.(694-696)TCC>TAC	p.S232Y	MAPT_uc010dau.2_Missense_Mutation_p.S232Y|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	232					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CCCCAAGACTCCCCTCCCTCC	0.692		NA											23	19					1.23e-08	1.96e-08	1	0
PCTP	58488	broad.mit.edu	37	17	53848541	53848541	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:53848541A>G	uc002iul.3	+	3	443	c.334A>G	c.(334-336)AGA>GGA	p.R112G	PCTP_uc002ium.3_Missense_Mutation_p.R40G|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	112	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			CATGTCCAACAGAGACGTATC	0.453		NA											25	61					0	0	0	0
ACTG1	71	broad.mit.edu	37	17	79478626	79478626	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:79478626C>A	uc002kaj.1	-	3	415	c.390G>T	c.(388-390)CCG>CCT	p.P130P	ACTG1_uc002kah.1_Silent_p.P8P|ACTG1_uc002kai.1_Silent_p.P87P|ACTG1_uc002kak.1_Silent_p.P130P|ACTG1_uc010wun.1_Silent_p.P130P|ACTG1_uc002kal.1_Silent_p.P130P|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	130					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTACATGGCCGGGGTGTTGA	0.612		NA											43	79					1.03e-14	1.7e-14	1	0
CHMP1B	57132	broad.mit.edu	37	18	11851736	11851736	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:11851736G>T	uc002kqe.2	+	1	348	c.226G>T	c.(226-228)GCT>TCT	p.A76S	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	76					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						CGATGCAGTGGCTGCCAGGGT	0.552		NA											42	100					3.77e-16	6.27e-16	1	0
HMHA1	23526	broad.mit.edu	37	19	1084297	1084297	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1084297G>A	uc002lqz.1	+	22	3247	c.3016G>A	c.(3016-3018)GAG>AAG	p.E1006K	HMHA1_uc010xgd.1_Missense_Mutation_p.E1022K|HMHA1_uc010xge.1_Missense_Mutation_p.E874K|HMHA1_uc002lra.1_Missense_Mutation_p.E846K|HMHA1_uc002lrb.1_Missense_Mutation_p.E889K|HMHA1_uc002lrc.1_Missense_Mutation_p.E641K|HMHA1_uc002lrd.1_Missense_Mutation_p.E82K|HMHA1_uc010dsd.1_Missense_Mutation_p.E112K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1006					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGGCGAGGCGGTGGT	0.687		NA											39	65					0	0	0	0
GPX4	2879	broad.mit.edu	37	19	1105487	1105487	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1105487C>T	uc010xgg.1	+	4	409	c.302C>T	c.(301-303)CCG>CTG	p.P101L	GPX4_uc010xgh.1_Missense_Mutation_p.P101L|GPX4_uc010xgi.1_Missense_Mutation_p.P138L	NM_002085	NP_002076	P36969	GPX4_HUMAN	glutathione peroxidase 4 isoform A precursor	101					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	CTGGCCTTCCCGTGTAACCAG	0.667		NA											15	42					0	0	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831597	7831597	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:7831597C>G	uc002mih.2	+	6	889	c.771C>G	c.(769-771)TAC>TAG	p.Y257*	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Nonsense_Mutation_p.Y213*|CLEC4M_uc010dvt.2_Nonsense_Mutation_p.Y234*|CLEC4M_uc010dvs.2_Nonsense_Mutation_p.Y256*|CLEC4M_uc010xjx.1_Nonsense_Mutation_p.Y229*|CLEC4M_uc002mhz.2_Nonsense_Mutation_p.Y188*|CLEC4M_uc002mic.2_Nonsense_Mutation_p.Y252*|CLEC4M_uc002mia.2_Nonsense_Mutation_p.Y144*	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	280	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						GAAACTGTTACTTCATGTCTA	0.577		NA											17	75					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10090691G>A	uc002mmq.1	-	36	2723	c.2637C>T	c.(2635-2637)TTC>TTT	p.F879F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	879	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612		NA											9	26					0	0	0	0
DNM2	1785	broad.mit.edu	37	19	10923011	10923011	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10923011T>C	uc002mps.1	+	15	1793	c.1629T>C	c.(1627-1629)TTT>TTC	p.F543F	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Silent_p.F543F|DNM2_uc002mpv.1_Silent_p.F539F|DNM2_uc002mpu.1_Silent_p.F539F|DNM2_uc010dxl.1_Silent_p.F543F|DNM2_uc002mpw.2_Silent_p.F272F	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	543	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTACTGGTTTGTGCTGACTG	0.622		NA											3	14					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299887	15299887	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:15299887C>T	uc002nan.2	-	8	1367	c.1291G>A	c.(1291-1293)GAT>AAT	p.D431N	NOTCH3_uc002nao.1_Missense_Mutation_p.D431N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	431	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGTTGACATCGGTCTCACAG	0.642		NA											24	39					0	0	0	0
C19orf44	84167	broad.mit.edu	37	19	16613911	16613911	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:16613911C>T	uc002neh.1	+	3	868	c.795C>T	c.(793-795)AGC>AGT	p.S265S	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.S265S|C19orf44_uc002neg.2_Silent_p.S265S|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	265											0						CTGTACCCAGCGTGGAACTCT	0.428		NA											34	60					0	0	0	0
ZNF90	7643	broad.mit.edu	37	19	20229606	20229606	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:20229606C>G	uc002nor.2	+	4	1382	c.1243C>G	c.(1243-1245)CAT>GAT	p.H415D	ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	zinc finger protein 90	415	C2H2-type 9.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ACTTACTATACATAAGATAAG	0.373		NA											7	10					0	0	0	0
RBM42	79171	broad.mit.edu	37	19	36120554	36120554	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:36120554C>G	uc002oan.2	+	2	337	c.261C>G	c.(259-261)ATC>ATG	p.I87M	RBM42_uc010xsx.1_Missense_Mutation_p.I87M|RBM42_uc010eef.2_Missense_Mutation_p.I87M|RBM42_uc002oao.2_Missense_Mutation_p.I87M|RBM42_uc002oap.2_Missense_Mutation_p.I87M|RBM42_uc002oaq.2_Missense_Mutation_p.I87M|RBM42_uc010eeg.2_Missense_Mutation_p.I87M	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	87						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCAATTATCGCGACCAACA	0.567		NA											14	63					0	0	0	0
RINL	126432	broad.mit.edu	37	19	39361379	39361379	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39361379G>A	uc002ojq.2	-	8	901	c.513C>T	c.(511-513)ATC>ATT	p.I171I	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.I285I	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	171							GTPase activator activity			pancreas(1)	1						AATCTGAGGCGATGCGCACCC	0.647		NA											14	31					0	0	0	0
GALP	85569	broad.mit.edu	37	19	56688559	56688559	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:56688559C>T	uc002qmo.1	+	2	164	c.82C>T	c.(82-84)CAC>TAC	p.H28Y	GALP_uc010eti.2_Missense_Mutation_p.H28Y	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	28					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CGCACCTGCCCACCGGGTAAC	0.587		NA											4	19					0	0	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27499677	27499677	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:27499677C>A	uc002rjl.1	+	3	499	c.81C>A	c.(79-81)GGC>GGA	p.G27G	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.G27G|DNAJC5G_uc002rjm.1_Silent_p.G27G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	27	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAGAAGGGCGCCTCACCTG	0.463		NA											20	21					1.02e-10	1.66e-10	1	0
PRKCE	5581	broad.mit.edu	37	2	46378288	46378288	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:46378288G>T	uc002rut.2	+	13	2037	c.1840G>T	c.(1840-1842)GAC>TAC	p.D614Y		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	614	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAATGAGGACGACCTATTTGA	0.587		NA											10	36					3.86e-05	5.95e-05	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745481	77745481	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:77745481G>T	uc002snr.2	-	3	1929	c.1514C>A	c.(1513-1515)CCC>CAC	p.P505H	LRRTM4_uc002snq.2_Missense_Mutation_p.P505H|LRRTM4_uc002sns.2_Missense_Mutation_p.P505H|LRRTM4_uc002snt.2_Missense_Mutation_p.P506H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	505	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		ATATGTGCAGGGCCCAGATCC	0.443		NA											12	23					2.81e-09	4.5e-09	1	0
LRP1B	53353	broad.mit.edu	37	2	141294273	141294273	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141294273T>C	uc002tvj.1	-	46	8491	c.7519A>G	c.(7519-7521)AAT>GAT	p.N2507D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2507	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGAGGAATTTTTAGCTGCA	0.318		NA								TSP Lung(27;0.18)			5	33					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141571249	141571249	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141571249T>G	uc002tvj.1	-	32	6308	c.5336A>C	c.(5335-5337)AAA>ACA	p.K1779T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1779	Extracellular (Potential).|LDL-receptor class B 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTGTAGCTTTTGTTAATTC	0.358		NA								TSP Lung(27;0.18)			22	35					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168102128	168102128	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:168102128G>A	uc002udx.2	+	8	4244	c.4226G>A	c.(4225-4227)AGT>AAT	p.S1409N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1234N|XIRP2_uc010fpq.2_Missense_Mutation_p.S1187N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1234					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATTATGCCCAGTATTGACCAT	0.343		NA											5	36					0	0	0	0
ABI2	10152	broad.mit.edu	37	2	204291988	204291988	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204291988C>G	uc002vaa.2	+	11	1690	c.1455C>G	c.(1453-1455)GAC>GAG	p.D485E	ABI2_uc002uzz.2_Missense_Mutation_p.D447E|ABI2_uc010zih.1_Missense_Mutation_p.D133E|ABI2_uc010zii.1_Missense_Mutation_p.D479E|ABI2_uc010zij.1_Missense_Mutation_p.D362E|ABI2_uc002vab.2_Missense_Mutation_p.D373E|ABI2_uc010zik.1_Missense_Mutation_p.D210E|ABI2_uc010zil.1_Missense_Mutation_p.D349E|ABI2_uc010zim.1_Missense_Mutation_p.D298E|ABI2_uc002vac.2_Missense_Mutation_p.D271E|ABI2_uc010zin.1_Missense_Mutation_p.D162E	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	485	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						AGAAGAATGACGATGGTTGGT	0.423		NA											17	29					0	0	0	0
RAPH1	65059	broad.mit.edu	37	2	204305402	204305402	+	Silent	SNP	C	C	G	rs144494517		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204305402C>G	uc002vad.2	-	14	2736	c.2511G>C	c.(2509-2511)CCG>CCC	p.P837P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	837					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						GTAATGTTGGCGGGGGTACTG	0.582		NA											6	78					0	0	0	0
WNT10A	80326	broad.mit.edu	37	2	219747032	219747032	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:219747032G>A	uc002vjd.1	+	2	726	c.263G>A	c.(262-264)GGC>GAC	p.G88D		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	88					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATACAGGGCATCCAGATC	0.582		NA											25	65					0	0	0	0
NMUR1	10316	broad.mit.edu	37	2	232393435	232393435	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:232393435G>C	uc002vry.3	-	2	407	c.297C>G	c.(295-297)CTC>CTG	p.L99L		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	99	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGCTGAAGAGGTAGTAGT	0.622		NA											38	71					0	0	0	0
DGKD	8527	broad.mit.edu	37	2	234368410	234368410	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:234368410C>T	uc002vui.1	+	23	2714	c.2702C>T	c.(2701-2703)ACG>ATG	p.T901M	DGKD_uc002vuj.1_Missense_Mutation_p.T857M|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	901					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTCGCACGGTGAAGATC	0.562		NA											14	32					0	0	0	0
ESF1	51575	broad.mit.edu	37	20	13763380	13763380	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:13763380C>T	uc002woj.2	-	2	515	c.407G>A	c.(406-408)GGA>GAA	p.G136E	ESF1_uc002wok.1_Missense_Mutation_p.G136E|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	136	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTTTTTAATTCCTATAGAATT	0.264		NA											5	24					0	0	0	0
SNX5	27131	broad.mit.edu	37	20	17932146	17932146	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:17932146T>G	uc002wqc.2	-	6	693	c.607A>C	c.(607-609)AAG>CAG	p.K203Q	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.K203Q|SNX5_uc002wqe.2_Missense_Mutation_p.K98Q|SNX5_uc010zrt.1_Missense_Mutation_p.K203Q	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	203	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						TCACTTACCTTAACTCCAGTA	0.363		NA											17	24					0	0	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31958354	31958354	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:31958354C>G	uc010gek.2	-	12	1509	c.1385G>C	c.(1384-1386)CGG>CCG	p.R462P	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R358P|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R448P|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R448P|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R357P|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R371P|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R448P|CDK5RAP1_uc002wzb.1_Missense_Mutation_p.R83P	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	462					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						CTGAACTTCCCGGAGCAAAGA	0.537		NA											35	122					0	0	0	0
SIK1	150094	broad.mit.edu	37	21	44839014	44839014	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr21:44839014T>A	uc002zdf.2	-	11	1476	c.1349A>T	c.(1348-1350)CAG>CTG	p.Q450L		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	450					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GCCCGGCCCCTGCCTGGCCTC	0.701		NA											5	6					0	0	0	0
HIRA	7290	broad.mit.edu	37	22	19398284	19398284	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:19398284C>T	uc002zpf.1	-	2	275	c.55G>A	c.(55-57)GTT>ATT	p.V19I	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.V19I|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	19	WD 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					TGAATATCAACTGAAAAAATC	0.383		NA											49	157					0	0	0	0
CSNK1E	1454	broad.mit.edu	37	22	38694868	38694868	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:38694868G>A	uc003avj.2	-	7	1069	c.808C>T	c.(808-810)CGT>TGT	p.R270C	CSNK1E_uc003avk.2_Missense_Mutation_p.R270C|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R270C|CSNK1E_uc003avo.2_Missense_Mutation_p.R270C|CSNK1E_uc003avp.1_Missense_Mutation_p.R270C|CSNK1E_uc003avq.1_Missense_Mutation_p.R270C	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	270	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					AAGAGCTGACGTAGGTAAGAG	0.542		NA									OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	98					0	0	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626178	41626178	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:41626178G>T	uc003azo.2	+	17	2095	c.2041G>T	c.(2041-2043)GTG>TTG	p.V681L	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	681					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						GCATCTAGACGTGGCCTCGCC	0.607		NA											18	61					6.33e-15	1.05e-14	1	0
ITPR1	3708	broad.mit.edu	37	3	4725402	4725402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:4725402G>T	uc003bqa.2	+	28	3739	c.3391G>T	c.(3391-3393)GAG>TAG	p.E1131*	ITPR1_uc010hca.1_Nonsense_Mutation_p.E1116*|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Nonsense_Mutation_p.E62*	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1140	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAAAAGTCAGAGCTTTGGGT	0.448		NA											4	54					2.56e-06	4.01e-06	1	0
NEK11	79858	broad.mit.edu	37	3	130748710	130748710	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:130748710G>C	uc003eny.2	+	3	484	c.158G>C	c.(157-159)CGA>CCA	p.R53P	NEK11_uc003enx.2_Missense_Mutation_p.R53P|NEK11_uc003eoa.2_Missense_Mutation_p.R53P|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.R53P|NEK11_uc003enw.1_Missense_Mutation_p.R53P|NEK11_uc011blm.1_Missense_Mutation_p.R53P	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	53	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						AAAGCCAAACGAGGAGAGGAA	0.383		NA											17	38					0	0	0	0
CLDN18	51208	broad.mit.edu	37	3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:137717874G>A	uc003ero.1	+	1	217	c.164G>A	c.(163-165)CGA>CAA	p.R55Q		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	55	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCCTGTGTCCGAGAGAGCTCT	0.602		NA											28	73					0	0	0	0
SI	6476	broad.mit.edu	37	3	164754249	164754249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:164754249C>A	uc003fei.2	-	22	2505	c.2443G>T	c.(2443-2445)GGA>TGA	p.G815*		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	815	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTATAAGTCCTAGAGGATTC	0.338		NA								HNSCC(35;0.089)			15	43					0.000422831	0.000644035	1	0
ZBBX	79740	broad.mit.edu	37	3	167031903	167031903	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:167031903A>C	uc003fep.2	-	16	1599	c.1276T>G	c.(1276-1278)TGT>GGT	p.C426G	ZBBX_uc011bpc.1_Missense_Mutation_p.C426G|ZBBX_uc003feq.2_Missense_Mutation_p.C397G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	426						intracellular	zinc ion binding			ovary(2)	2						TGAAAAGCACAACTTTCACAT	0.284		NA											4	73					0	0	0	0
NCEH1	57552	broad.mit.edu	37	3	172365793	172365793	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:172365793C>G	uc011bpx.1	-	2	484	c.346G>C	c.(346-348)GAC>CAC	p.D116H	NCEH1_uc003fig.2_Missense_Mutation_p.D116H|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	84	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						AAGTCTGTGTCGGTCACCTTC	0.517		NA											13	83					0	0	0	0
KNG1	3827	broad.mit.edu	37	3	186459996	186459996	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:186459996C>T	uc011bsa.1	+	10	2023	c.1811C>T	c.(1810-1812)TCA>TTA	p.S604L	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	604					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AACCCAATATCAGATTTTCCA	0.423		NA											32	114					0	0	0	0
EVC2	132884	broad.mit.edu	37	4	5586437	5586437	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:5586437G>C	uc003gij.2	-	17	3024	c.2970C>G	c.(2968-2970)AGC>AGG	p.S990R	EVC2_uc011bwb.1_Missense_Mutation_p.S430R|EVC2_uc003gik.2_Missense_Mutation_p.S910R	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	990						integral to membrane				large_intestine(3)|ovary(2)	5						AGTCCTGGATGCTGAGGAGGG	0.617		NA											6	38					0	0	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660159	77660159	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:77660159C>G	uc011cbx.1	+	5	1786	c.833C>G	c.(832-834)TCT>TGT	p.S278C	SHROOM3_uc011cbz.1_Missense_Mutation_p.S102C|SHROOM3_uc003hkf.1_Missense_Mutation_p.S153C|SHROOM3_uc003hkg.2_Missense_Mutation_p.S56C	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	278					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CCTGGCATCTCTGGCCGGGAG	0.527		NA											17	64					0	0	0	0
C4orf21	55345	broad.mit.edu	37	4	113462064	113462064	+	Silent	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:113462064T>A	uc003iau.2	-	26	6034	c.5823A>T	c.(5821-5823)ACA>ACT	p.T1941T	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Silent_p.T399T	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	763						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAGCTTGAGTGTAAACGTAG	0.358		NA											5	5					0	0	0	0
GYPA	2993	broad.mit.edu	37	4	145039887	145039887	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:145039887G>A	uc003ijo.3	-	4	367	c.251C>T	c.(250-252)GCC>GTC	p.A84V	GYPA_uc003ijn.2_Missense_Mutation_p.A84V|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.A51V|GYPA_uc003ijp.3_Missense_Mutation_p.A52V|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Missense_Mutation_p.A19V|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	84	Extracellular.		A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity	p.A84T(1)		central_nervous_system(2)	2	all_hematologic(180;0.15)					GAAATGATGGGCAAGTTGTAC	0.313		NA											36	17					0	0	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156724819	156724819	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:156724819C>T	uc003ipc.2	+	11	1624	c.1457C>T	c.(1456-1458)CCA>CTA	p.P486L	GUCY1B3_uc011cio.1_Missense_Mutation_p.P508L|GUCY1B3_uc011cip.1_Missense_Mutation_p.P466L|GUCY1B3_uc003ipd.2_Missense_Mutation_p.P414L|GUCY1B3_uc010iqf.2_Missense_Mutation_p.P453L|GUCY1B3_uc010iqg.2_Missense_Mutation_p.P457L|GUCY1B3_uc011ciq.1_Missense_Mutation_p.P414L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	486	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGTGGTTTACCAGAGCCATGC	0.428		NA											10	9					0	0	0	0
NPY1R	4886	broad.mit.edu	37	4	164247590	164247590	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:164247590C>A	uc003iqm.1	-	2	383	c.117G>T	c.(115-117)ATG>ATT	p.M39I	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	39	Extracellular (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGTAAATATCATGGCCAAGG	0.408		NA											32	24					5.46e-16	9.07e-16	1	0
TRIO	7204	broad.mit.edu	37	5	14477072	14477072	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:14477072C>G	uc003jff.2	+	41	6159	c.6153C>G	c.(6151-6153)CAC>CAG	p.H2051Q	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.H1700Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2051	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TTGTTAAACACGTAAGCACAA	0.353		NA											4	20					0	0	0	0
CDH18	1016	broad.mit.edu	37	5	19483518	19483518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:19483518C>A	uc003jgc.2	-	11	2151	c.1774G>T	c.(1774-1776)GAG>TAG	p.E592*	CDH18_uc003jgd.2_Nonsense_Mutation_p.E592*|CDH18_uc011cnm.1_Silent_p.A555A	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	592	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATCTCTCTCGCATGCACAA	0.517		NA											9	31					0.00448238	0.006688	1	0
FBN2	2201	broad.mit.edu	37	5	127614517	127614517	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:127614517G>C	uc003kuu.2	-	57	7594	c.7155C>G	c.(7153-7155)CTC>CTG	p.L2385L		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2385	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCAAAGCAGAGACCCTGTC	0.468		NA											13	29					0	0	0	0
C5orf20	140947	broad.mit.edu	37	5	134782555	134782555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:134782555G>A	uc003lav.2	-	1	484	c.244C>T	c.(244-246)CGA>TGA	p.R82*		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	82						nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCTCTCGCAGGACCCCA	0.592		NA											19	54					0	0	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568207	140568207	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:140568207T>C	uc003liw.1	+	3	1316	c.1316T>C	c.(1315-1317)CTG>CCG	p.L439P		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	439	Extracellular (Potential).|Cadherin 4.				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)			AGCATAACCCTGCAGGTCTCC	0.582		NA											59	156					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7579931	7579931	+	Missense_Mutation	SNP	G	G	A	rs139582608		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:7579931G>A	uc003mxp.1	+	23	3787	c.3508G>A	c.(3508-3510)GAG>AAG	p.E1170K	DSP_uc003mxq.1_Missense_Mutation_p.E1170K	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1170	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	p.E1170K(1)		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)		GAAGGAGTACGAGATTGAAAG	0.438		NA											9	15					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15517481	15517481	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:15517481G>C	uc003nbj.2	+	17	3784	c.3540G>C	c.(3538-3540)TTG>TTC	p.L1180F	JARID2_uc011div.1_Missense_Mutation_p.L1008F	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1180					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCTGAAGTTGATGTACCGCT	0.622		NA											18	66					0	0	0	0
KDM1B	221656	broad.mit.edu	37	6	18208370	18208370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:18208370G>T	uc003nco.1	+	10	1265	c.1190G>T	c.(1189-1191)TGT>TTT	p.C397F	KDM1B_uc003ncn.1_Missense_Mutation_p.C368F	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	600					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						CAGGTGCAGTGTATTGATTAT	0.428		NA											12	60					0.000308642	0.000471198	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27834778	27834778	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:27834778G>A	uc003njx.2	-	1	582	c.530C>T	c.(529-531)GCC>GTC	p.A177V		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	177					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						AGCGGCCTTGGCCTTCTTAGG	0.587		NA											45	91					0	0	0	0
ATP6V1G2	534	broad.mit.edu	37	6	31514269	31514269	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:31514269G>T	uc003nua.2	-	1	359	c.68C>A	c.(67-69)GCA>GAA	p.A23E	BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Intron|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	NM_130463	NP_569730	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	23					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding				0						TCTGGCATCTGCCACCTTCTC	0.512		NA											7	17					0.00198382	0.00296671	1	0
ZNF318	24149	broad.mit.edu	37	6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:43323114G>A	uc003oux.2	-	4	2036	c.1958C>T	c.(1957-1959)TCA>TTA	p.S653L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537		NA											28	83					0	0	0	0
GPR110	266977	broad.mit.edu	37	6	46977268	46977268	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:46977268A>C	uc003oyt.2	-	11	2102	c.1903T>G	c.(1903-1905)TTG>GTG	p.L635V	GPR110_uc011dwl.1_Missense_Mutation_p.L323V	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	635	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TCAGCAATCAAGAGGGACAGG	0.458		NA											15	17					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90384055	90384055	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:90384055G>T	uc003pnn.1	-	79	13131	c.13015C>A	c.(13015-13017)CTT>ATT	p.L4339I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4339					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTTGCTAAGTTCTGGTCCT	0.587		NA											37	39					3.93e-24	6.6e-24	1	0
SOBP	55084	broad.mit.edu	37	6	107824913	107824913	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:107824913A>C	uc003prx.2	+	2	653	c.149A>C	c.(148-150)AAG>ACG	p.K50T	SOBP_uc003prw.1_Missense_Mutation_p.K50T	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	50							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTATGATAAGGTTGAATTA	0.388		NA											19	108					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:116949485G>C	uc003pxe.2	+	3	1760	c.1615G>C	c.(1615-1617)GAA>CAA	p.E539Q	RSPH4A_uc010kee.2_Missense_Mutation_p.E539Q	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	539	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TGATCTAGTAGAATCCCTATC	0.423		NA							Kartagener_syndrome				25	144					0	0	0	0
FAM162B	221303	broad.mit.edu	37	6	117086702	117086702	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117086702C>T	uc003pxi.2	-	1	185	c.38G>A	c.(37-39)CGC>CAC	p.R13H		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	13						integral to membrane					0						TGTTAGCCCGCGGCCAAGGCG	0.761		NA											7	6					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117246774	117246774	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117246774G>A	uc003pxm.2	+	16	1900	c.1837G>A	c.(1837-1839)GCT>ACT	p.A613T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	613					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CCTAGGCCCTGCTCTGCACCA	0.547		NA											38	81					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129637001	129637001	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:129637001G>C	uc003qbn.2	+	26	3935	c.3830G>C	c.(3829-3831)CGA>CCA	p.R1277P	LAMA2_uc003qbo.2_Missense_Mutation_p.R1277P	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1277	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATCATTCGAGGTGGGACA	0.443		NA											141	71					0	0	0	0
TMEM181	57583	broad.mit.edu	37	6	159050835	159050835	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:159050835G>A	uc003qrm.3	+	15	1688	c.1677G>A	c.(1675-1677)TCG>TCA	p.S559S		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	559					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ATTCTCCATCGAAGAATGCCC	0.542		NA											41	42					0	0	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575210	161575210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:161575210G>A	uc003qtr.1	-	4	708	c.481C>T	c.(481-483)CAC>TAC	p.H161Y	AGPAT4_uc003qts.1_Missense_Mutation_p.H21Y|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.H161Y|AGPAT4_uc011egd.1_Missense_Mutation_p.H99Y|AGPAT4_uc011ege.1_Missense_Mutation_p.A104V	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	161					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCCCGGAGGTGCTGCAAACTG	0.567		NA											24	38					0	0	0	0
GPR31	2853	broad.mit.edu	37	6	167570533	167570533	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:167570533T>C	uc011egq.1	-	1	787	c.787A>G	c.(787-789)ACC>GCC	p.T263A		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	263	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACATCCGAGGTATGAGCCACT	0.587		NA											32	43					0	0	0	0
THBS2	7058	broad.mit.edu	37	6	169640559	169640559	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:169640559C>G	uc003qwt.2	-	7	1268	c.1020G>C	c.(1018-1020)ACG>ACC	p.T340T		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	340	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTACACGTGGTGCAGC	0.572		NA											21	32					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4839063	4839063	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:4839063C>T	uc003snj.1	-	15	3347	c.3174G>A	c.(3172-3174)GCG>GCA	p.A1058A	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.A563A|RADIL_uc011jwc.1_Silent_p.A818A|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.A354A	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	1058	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCGGACTTCGCGACCAGGA	0.647		NA											124	48					0	0	0	0
MEOX2	4223	broad.mit.edu	37	7	15652017	15652017	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:15652017A>G	uc003stc.2	-	3	1191	c.910T>C	c.(910-912)TTA>CTA	p.L304L	MEOX2_uc011jxw.1_Silent_p.L304L	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	304					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTATATCATAAGTGCGCATGC	0.478		NA											9	204					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21639563	21639563	+	Silent	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:21639563G>T	uc003svc.2	+	15	2857	c.2826G>T	c.(2824-2826)CCG>CCT	p.P942P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACCGGCACCGTTTTTTCAAG	0.408		NA							Kartagener_syndrome				45	19					1.16e-17	1.93e-17	1	0
AKAP9	10142	broad.mit.edu	37	7	91630769	91630769	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:91630769A>T	uc003ulg.2	+	8	1763	c.1538A>T	c.(1537-1539)AAG>ATG	p.K513M	AKAP9_uc003ule.2_Missense_Mutation_p.K525M|AKAP9_uc003ulf.2_Missense_Mutation_p.K513M|AKAP9_uc003uli.2_Missense_Mutation_p.K138M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	525	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAAACTCAAGGAAGAACTA	0.323		NA	T	BRAF	papillary thyroid								18	51					0	0	0	0
METTL2B	55798	broad.mit.edu	37	7	128119472	128119472	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:128119472C>T	uc003vnf.2	+	3	500	c.463C>T	c.(463-465)CCT>TCT	p.P155S	METTL2B_uc003vng.2_Missense_Mutation_p.P90S|METTL2B_uc011kop.1_Missense_Mutation_p.P19S	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	155							methyltransferase activity			skin(1)	1						AACACAGACACCTCCTGTGGA	0.423		NA											9	98					0	0	0	0
MEST	4232	broad.mit.edu	37	7	130139737	130139737	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:130139737G>A	uc003vqg.2	+	7	774	c.557G>A	c.(556-558)CGT>CAT	p.R186H	MEST_uc003vqc.2_Missense_Mutation_p.R177H|MEST_uc003vqd.2_Missense_Mutation_p.R177H|MEST_uc003vqf.2_Missense_Mutation_p.R177H|MEST_uc011kph.1_Missense_Mutation_p.R172H|MEST_uc010lmg.2_Missense_Mutation_p.R186H	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	186					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					GAGACTCACCGTCCACTCCTT	0.328		NA											16	52					0	0	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603742	138603742	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:138603742C>T	uc011kql.1	-	2	679	c.630G>A	c.(628-630)TCG>TCA	p.S210S	KIAA1549_uc003vuk.3_Silent_p.S160S|KIAA1549_uc011kqj.1_Silent_p.S210S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	210						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCTGCCAGCCCGATGTCACTT	0.522		NA	O	BRAF	pilocytic astrocytoma								6	129					0	0	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417387	150417387	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:150417387G>A	uc003whq.2	+	3	382	c.295G>A	c.(295-297)GAG>AAG	p.E99K	GIMAP1_uc003whp.2_Missense_Mutation_p.E107K	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	99	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGCTGTGAGGAGAGAGG	0.647		NA											22	45					0	0	0	0
NUB1	51667	broad.mit.edu	37	7	151073852	151073852	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151073852G>C	uc003wjx.2	+	14	1701	c.1696G>C	c.(1696-1698)GAA>CAA	p.E566Q	NUB1_uc003wjw.2_Missense_Mutation_p.E528Q|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	542					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTGTCGCCAGAAGACTCTTT	0.612		NA											2	7					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	151945611	151945611	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151945611A>C	uc003wla.2	-	14	2127	c.1908T>G	c.(1906-1908)CAT>CAG	p.H636Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	636					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)		CGCCACAAATATGCTTCACTT	0.363		NA	N		medulloblastoma								21	44					0	0	0	0
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:97321825G>C	uc003yht.1	+	9	1150	c.1048G>C	c.(1048-1050)GTA>CTA	p.V350L	PTDSS1_uc003yhu.1_Missense_Mutation_p.V204L	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433		NA											6	48					0	0	0	0
FAM83A	84985	broad.mit.edu	37	8	124204207	124204207	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:124204207C>T	uc003ypv.2	+	3	2659	c.645C>T	c.(643-645)CTC>CTT	p.L215L	FAM83A_uc003ypw.2_Silent_p.L215L|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Silent_p.L215L|FAM83A_uc003ypz.2_Silent_p.L215L	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	215										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCACCTCAAGGTAGGGG	0.373		NA											38	174					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139163587	139163587	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:139163587A>T	uc003yuy.2	-	13	3302	c.3131T>A	c.(3130-3132)TTC>TAC	p.F1044Y	FAM135B_uc003yux.2_Missense_Mutation_p.F945Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.F606Y|FAM135B_uc003yvb.2_Missense_Mutation_p.F606Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1044										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGATGAGAAAGGGAGACA	0.532		NA								HNSCC(54;0.14)			34	46					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144996309	144996309	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:144996309A>G	uc003zaf.1	-	32	8261	c.8091T>C	c.(8089-8091)CAT>CAC	p.H2697H	PLEC_uc003zab.1_Silent_p.H2560H|PLEC_uc003zac.1_Silent_p.H2564H|PLEC_uc003zad.2_Silent_p.H2560H|PLEC_uc003zae.1_Silent_p.H2528H|PLEC_uc003zag.1_Silent_p.H2538H|PLEC_uc003zah.2_Silent_p.H2546H|PLEC_uc003zaj.2_Silent_p.H2587H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2697	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTCGGCCTCATGCTGCCGCC	0.398		NA											7	3					0	0	0	0
DCAF12	25853	broad.mit.edu	37	9	34125196	34125196	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:34125196C>G	uc003ztt.2	-	2	500	c.158G>C	c.(157-159)CGG>CCG	p.R53P		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53						centrosome|CUL4 RING ubiquitin ligase complex					0						CCTGACTTCCCGGTTCTTCAA	0.453		NA											16	42					0	0	0	0
OR13C4	138804	broad.mit.edu	37	9	107288722	107288722	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:107288722A>G	uc011lvn.1	-	1	769	c.769T>C	c.(769-771)TTT>CTT	p.F257L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCATACATAAAGAAGATGGTA	0.468		NA											73	42					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113173432	113173432	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:113173432C>T	uc010mtz.2	-	37	6896	c.6559G>A	c.(6559-6561)GAA>AAA	p.E2187K	SVEP1_uc010mty.2_Missense_Mutation_p.E113K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2187	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCTGTGGCTTCGCAGGTGCTC	0.507		NA											29	77					0	0	0	0
WDR34	89891	broad.mit.edu	37	9	131397505	131397505	+	Missense_Mutation	SNP	G	G	A	rs11541003		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:131397505G>A	uc004bvq.1	-	6	971	c.847C>T	c.(847-849)CGC>TGC	p.R283C	WDR34_uc004bvs.1_Missense_Mutation_p.R274C|WDR34_uc004bvr.1_Intron	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	283	WD 2.					cytoplasm				central_nervous_system(2)|skin(1)	3						ACCTGGAAGCGGTGGCTGTGC	0.652		NA									OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	12					0	0	0	0
PRKX	5613	broad.mit.edu	37	X	3592789	3592789	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:3592789C>G	uc010nde.2	-	2	552	c.185G>C	c.(184-186)CGG>CCG	p.R62P		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	62	ATP (By similarity).|Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGTGCACCCGCCCGAACGT	0.552		NA											25	22					0	0	0	0
CXorf58	254158	broad.mit.edu	37	X	23956699	23956699	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:23956699C>A	uc004daz.1	+	8	1165	c.821C>A	c.(820-822)CCC>CAC	p.P274H	CXorf58_uc011mju.1_Missense_Mutation_p.P274H	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	274											0						CTATATCGGCCCTACAAACAG	0.323		NA											28	25					2.46e-21	4.12e-21	1	0
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:44922694C>T	uc004dge.3	+	16	1930	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGCACAGGTACGATCTACTGG	0.463		NA	D|N|F|S		renal|oesophageal SCC|MM								19	19					0	0	0	0
ACRC	93953	broad.mit.edu	37	X	70823685	70823685	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:70823685G>C	uc004eae.2	+	8	1059	c.558G>C	c.(556-558)TCG>TCC	p.S186S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	186	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498		NA											95	74					0	0	0	0
ENOX2	10495	broad.mit.edu	37	X	129771269	129771269	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:129771269T>G	uc004evw.2	-	12	1750	c.1332A>C	c.(1330-1332)AGA>AGC	p.R444S	ENOX2_uc004evx.2_Missense_Mutation_p.R415S|ENOX2_uc004evy.2_Missense_Mutation_p.R415S|ENOX2_uc004evv.2_Missense_Mutation_p.R269S	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	444	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						GGTCATCTTCTCTGTGGACTT	0.478		NA											84	54					0	0	0	0
IL9R	3581	broad.mit.edu	37	X	155235823	155235823	+	Missense_Mutation	SNP	C	C	T	rs145116573	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:155235823C>T	uc004fnv.1	+	7	1036	c.857C>T	c.(856-858)CCG>CTG	p.P286L	IL9R_uc010nvn.2_Missense_Mutation_p.P265L|IL9R_uc004fnu.1_Missense_Mutation_p.P321L	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	286	Helical; (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGACTGGCCCGACCTACCTC	0.448		NA											13	20					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109793107	109793109	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:109793107_109793109delCCG	uc001dxa.3	+	1	467_469	c.406_408delCCG	c.(406-408)CCGdel	p.P136del		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	136	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGAGCACCCGTGCTTAAAGG	0.66		NA											32	61	---	---	---	---	NA	NA	NA	NA
OR1S1	219959	broad.mit.edu	37	11	57982857	57982864	+	Frame_Shift_Del	DEL	TTGTGGGT	TTGTGGGT	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57982857_57982864delTTGTGGGT	uc010rkc.1	+	1	641_648	c.641_648delTTGTGGGT	c.(640-648)ATTGTGGGTfs	p.I214fs		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	214_216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GTGTTGTTTATTGTGGGTTTATCAGTTA	0.438		NA											21	106	---	---	---	---	NA	NA	NA	NA
TMTC3	160418	broad.mit.edu	37	12	88560138	88560138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:88560138delC	uc001tau.2	+	7	1049	c.829delC	c.(829-831)CCTfs	p.P277fs	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	277						integral to membrane	binding			skin(1)	1						AAGCCCAACTCCTACAAGGCA	0.348		NA											17	50	---	---	---	---	NA	NA	NA	NA
TMEM95	339168	broad.mit.edu	37	17	7259577	7259578	+	Frame_Shift_Del	DEL	CG	CG	-	rs142054857		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7259577_7259578delCG	uc002ggh.1	+	5	418_419	c.391_392delCG	c.(391-393)CGAfs	p.R131fs	TMEM95_uc002ggf.1_Frame_Shift_Del_p.R139fs|TMEM95_uc002ggg.1_Frame_Shift_Del_p.R131fs	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	131	Extracellular (Potential).					integral to membrane					0		Prostate(122;0.173)				CTGCTGGCCCCGAAAGCGCTGC	0.678		NA									OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---	NA	NA	NA	NA
MPP3	4356	broad.mit.edu	37	17	41898342	41898343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:41898342_41898343insGC	uc002iei.3	-	11	934_935	c.768_769insGC	c.(766-771)CGCAGGfs	p.R256fs	MPP3_uc002ieh.2_Frame_Shift_Ins_p.R281fs|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Frame_Shift_Ins_p.R256fs|MPP3_uc010wik.1_Frame_Shift_Ins_p.R281fs	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	256_257	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGACCTGCCTGCGCTGGAAGG	0.683		NA											7	18	---	---	---	---	NA	NA	NA	NA
PMAIP1	5366	broad.mit.edu	37	18	57569886	57569889	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:57569886_57569889delAGTC	uc002lic.2	+	2	284_287	c.66_69delAGTC	c.(64-69)GAAGTCfs	p.E22fs	PMAIP1_uc002lid.2_Frame_Shift_Del_p.S73fs	NM_021127	NP_066950	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein	22_23					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding				0		Colorectal(73;0.0946)				CAGAGCTGGAAGTCGAGTGTGCTA	0.431		NA											12	36	---	---	---	---	NA	NA	NA	NA
PCLO	27445	broad.mit.edu	37	7	82583946	82583946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:82583946delG	uc003uhx.2	-	5	6612	c.6323delC	c.(6322-6324)TCAfs	p.S2108fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.S2108fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2039					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGAACACTTGATGTCAAAGA	0.453		NA											10	36	---	---	---	---	NA	NA	NA	NA
